Prof. Dr. ŞEHİME GÜLSÜN TEMEL

Yayın Ağı

Makaleler 118

1. Deleterious variants in the autophagy-related gene RB1CC1/FIP200 impair immunity to SARS-CoV-2.

Hu L., van der Sluis R. M., Castelino K. B., Zhang B., Ronit A., Zillinger T., et al.

Nature communications , cilt.16, sa.1, ss.10618, 2025 (SCI-Expanded, Scopus)

2. Genetic and clinical characteristics of children with mody: insights into novel HNF4A variants and genotype–phenotype correlation

Buhur Pirimoglu M., Gundogdu Ogutlu O. B., NURSOY H., Onay H., ÖZEMRİ SAĞ Ş., TEMEL Ş. G., et al.

Irish Journal of Medical Science , cilt.194, sa.5, ss.1605-1615, 2025 (SCI-Expanded, Scopus)

3. THE EXPRESSION PROFILE OF WNT/Β-CATENIN SIGNALLING PATHWAY GENES IN MISCARRIAGES

Gulseren E., Garber C. B. A., Hamad A. T., Ozay A. C., Mocan G., Temel Ş. G., et al.

BALKAN JOURNAL OF MEDICAL GENETICS , cilt.28, sa.1, ss.1-10, 2025 (SCI-Expanded)

4. Computational Analysis of CC2D1A Missense Mutations: Insight into Protein Structure and Interaction Dynamics.

Abuelrub A., Erol I., Nalbant Bingol N., Ozemri Sag S., Temel S. G., Durdağı S.

ACS chemical neuroscience , cilt.16, sa.19, ss.3665-3681, 2025 (SCI-Expanded, Scopus)

5. Unravelling the Complexity of Sarcopenia Through a Systems Biology Approach

Ceyhan A. B., Altay Ö., Zhang C., Temel Ş. G., Turkez H., Mardinoğlu A.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES , cilt.26, sa.17, ss.1-24, 2025 (SCI-Expanded)

6. The Development of a Fuzzy Logic System Using MATLAB for Early Detection of Hereditary Cancer in BRCA1/2 Negative Cases

ŞENTÜRK N., VOLKAN P. G., BABİKER S. A., DOĞAN B., ALİYEVA L., ÖZEMRİ SAĞ Ş., et al.

BALKAN JOURNAL OF MEDICAL GENETICS , cilt.28, sa.1, ss.1-10, 2025 (SCI-Expanded, Scopus)

7. PullExo: An orthosis-based mobile hand exoskeleton with on-device visual biofeedback

Yassı İ. E., Ekeer E., Durmaz A., Günay S. M., Özçakır Ş., Temel Ş. G.

JOURNAL OF HAND THERAPY , sa.2, ss.1-11, 2025 (SCI-Expanded)

8. Genetic and Clinical Spectrum of PIEZO2-Related Disorders: Insights from a Multicenter Study of 26 Patients

Akıncı G., Özyılmaz ., Öztürk G., Kömür ., Onel ., Ardıçlı D., et al.

NEUROMUSCULAR DISORDERS , cilt.1, ss.1-40, 2025 (SCI-Expanded)

9. Clinical Presentation, Diagnosis, and Genetic Characteristics of Patients with Hypophosphatemic Rickets*

Denkboy Öngen Y., Temel Ş. G., Tarım Ö., Özemri Sağ Ş., Eren E.

Uludağ Üniversitesi Tıp Fakültesi Dergisi , cilt.51, ss.193-200, 2025 (Hakemli Dergi)

10. Correlation of ITGB3 Gene rs5918T>C and APOA1 Gene rs1799837C>T Variants with Serum Lipid Profiles in Turkish Cypriot Patients with Coronary Artery Disease

Conkbayir C., Ergören M. Ç., Çobanoğulları H., Balcıoğlu O., Abras İ., Eminsel T., et al.

COR ET VASA , sa.2, ss.6-12, 2025 (ESCI)

11. ClioMD: An artificial intelligence model for ciliopathies

Ergören M. Ç., Şentürk N., B. Ali M. S., Özcelik İ. Ö., Erol K. D., Temel Ş. G., et al.

EUROBIOTECH JOURNAL , cilt.9, sa.2, ss.128-138, 2025 (ESCI)

12. GFPT1-related congenital myasthenic syndrome misdiagnosed as myopathy: clinical and genetic insights

Calikusu F. Z., Oğuz Akarsu E., Özemri Sağ Ş., Temel Ş. G., Karlı H. N.

ACTA NEUROLOGICA BELGICA , cilt.1, sa.1, ss.1-6, 2025 (SCI-Expanded)

13. A common form of dominant human IFNAR1 deficiency impairs IFN-α and -ω but not IFN-β-dependent immunity.

Al Qureshah F., Le Pen J., de Weerd N. A., Moncada-Velez M., Materna M., Lin D. C., et al.

The Journal of experimental medicine , cilt.222, sa.2, 2025 (SCI-Expanded, Scopus)

14. Use of a Kiosk-Model Self-Triage System for COVID-19 Triage

Görek Dilektaşlı A., Durak V. A., Korkmaz E., Kiras G., Şen A., Bülbül Başkan E., et al.

RISK MANAGEMENT AND HEALTHCARE POLICY , sa.18, ss.579-582, 2025 (SCI-Expanded)

15. Heterozygous BTNL8 variants in individuals with multisystem inflammatory syndrome in children (MIS-C).

Bellos E., Santillo D., Vantourout P., Jackson H. R., Duret A., Hearn H., et al.

The Journal of experimental medicine , cilt.221, sa.12, 2024 (SCI-Expanded, Scopus)

16. Investigation of infectious droplet dispersion in a hospital examination room cooled by split-type air conditioner

Yüce B. E., Kalay O. C., Karpat F., Alemdar A., Temel Ş. G., Dilektaşlı A. G., et al.

Journal of Environmental Health Science and Engineering , cilt.22, sa.2, ss.471-482, 2024 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

17. Identifying Hub Genes and Metabolic Pathways in Collagen VI-Related Dystrophies: A Roadmap to Therapeutic Intervention

Ceyhan A. B., Kaynar A., Altay O., Zhang C., TEMEL Ş. G., TÜRKEZ H., et al.

BIOMOLECULES , cilt.14, sa.11, 2024 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

18. SARS-CoV-2 brainstem encephalitis in human inherited DBR1 deficiency.

Chan Y., Lundberg V., Le Pen J., Yuan J., Lee D., Pinci F., et al.

The Journal of experimental medicine , cilt.221, sa.9, 2024 (SCI-Expanded, Scopus)

19. Genotype and Phenotype Correlation of Patients with Osteogenesis Imperfecta

Aliyeva L., DENKBOY ÖNGEN Y., EREN E., SARISÖZEN M. B., ALEMDAR A., TEMEL Ş. G., et al.

JOURNAL OF MOLECULAR DIAGNOSTICS , cilt.26, sa.9, ss.754-769, 2024 (SCI-Expanded, Scopus)

20. The impact and future of artificial intelligence in medical genetics and molecular medicine: an ongoing revolution.

Ozcelik F., Dundar M. S., Yildirim A. B., Henehan G., Vicente O., Sánchez-Alcázar J. A., et al.

Functional & integrative genomics , cilt.24, sa.4, ss.138, 2024 (SCI-Expanded)

21. CC2D1A causes ciliopathy, intellectual disability, heterotaxy, renal dysplasia, and abnormal CSF flow

Kim A. H., Sakin I., Viviano S., Tuncel G., Aguilera S. M., Goles G., et al.

LIFE SCIENCE ALLIANCE , cilt.7, sa.10, 2024 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

22. Pyruvate kinase deficiency in 29 Turkish patients with two novel intronic variants.

Gök V., Leblebisatan G., Gürlek Gökçebay D., Güler S., Doğan M. E., Tuğ Bozdoğan S., et al.

British journal of haematology , cilt.205, sa.1, ss.236-242, 2024 (SCI-Expanded, Scopus)

23. **Alzheimer Disease Associated Loci: APOE Single Nucleotide Polymorphisms in Marmara Region**

Ismail A. B., DÜNDAR M. S., Erguzeloglu C. O., Ergoren M. C., ALEMDAR A., ÖZEMRİ SAĞ Ş., et al.

BIOMEDICINES , cilt.12, sa.5, 2024 (SCI-Expanded, Scopus)

24. Lack of association between classical HLA genes and asymptomatic SARS-CoV-2 infection.

Marchal A., Cirulli E. T., Neveux I., Bellos E., Thwaites R. S., Schiabor Barrett K. M., et al.

HGG advances , cilt.5, sa.3, ss.100300, 2024 (ESCI, Scopus)

25. Footprints of Stress in Vitiligo: Association of the 5-HTR2C rs6318 Variant

Yilmaz I., YAZİCİ S., Ergoren M. C., Baskan E. B., ORAL H. B., AYDOĞAN K., et al.

EUROBIOTECH JOURNAL , cilt.8, sa.2, ss.65-73, 2024 (ESCI) Sürdürülebilir Kalkınma

26. Homozygous missense variants in YKT6 result in loss of function and are associated with developmental delay, with or without severe infantile liver disease and risk for hepatocellular carcinoma.

Ma M., Ganapathi M., Zheng Y., Tan K., Kanca O., Bove K. E., et al.

Genetics in medicine : official journal of the American College of Medical Genetics , sa.-, ss.101125, 2024 (SCI-Expanded)

27. Higher COVID-19 pneumonia risk associated with anti-IFN-α than with anti-IFN-ω auto-Abs in children.

Bastard P., Gervais A., Taniguchi M., Saare L., Särekannu K., Le Voyer T., et al.

The Journal of experimental medicine , cilt.221, sa.2, 2024 (SCI-Expanded, Scopus)

28. Investigation of the Release of Growth Factors from Apheresis Platelet Concentrate (APC) Loaded Three Layered Composite Nanofiber Surface

Yılmaz H., Aras C., Karaçay M., Altuntuğ Cesur M. İ., Karaca E., Temel Ş. G., et al.

TEKSTIL VE KONFEKSIYON , cilt.34, sa.3, ss.244-252, 2024 (SCI-Expanded) Sürdürülebilir Kalkınma

29. Autoantibodies against type I IFNs in humans with alternative NF-κB pathway deficiency.

Le Voyer T., Parent A. V., Liu X., Cederholm A., Gervais A., Rosain J., et al.

Nature , cilt.623, sa.7988, ss.803-813, 2023 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

30. From Death to Life/Back to the Future: Detailed Premorbid Clinical and Family History Can Save Lives and Address the Final Diagnosis in Sudden Unexplained Deaths With Negative Autopsy

Türkgenc B., Baydar Ç. L., Akçay A., Deniz I., Ergoren M. Ç., Özemri Sağ Ş., et al.

APPLIED IMMUNOHISTOCHEMISTRY AND MOLECULAR MORPHOLOGY , cilt.11, ss.1-8, 2023 (SCI-Expanded)

31. An Endocrinological Perspective on 22q11.2 Deletion Syndrome: A Single-center Experience

Denkboy Ongen Y., Ozemri Sag S., Temel Ş. G., Eren E.

JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY , cilt.15, sa.3, ss.285-292, 2023 (SCI-Expanded, Scopus, TRDizin)

32. Human Genomics of COVID-19 Pneumonia: Contributions of Rare and Common Variants

Cobat A., Zhang Q., Abel L., Al-Muhsen S., Aiuti A., Al-Mulla F., et al.

ANNUAL REVIEW OF BIOMEDICAL DATA SCIENCE , cilt.6, ss.465-486, 2023 (ESCI, Scopus)

33. A new line method; A direct test in spinal muscular atrophy screening for DBS

Kubar A., Temel Ş. G., Ergören M. C., Hatırnaz Ng Ö., Özemri Sağ Ş., Alanay Y., et al.

MOLECULAR GENETICS AND GENOMICS , sa.6, ss.1-8, 2023 (SCI-Expanded)

34. Lessons from Real Life Experience: Importance of In-House Sequencing and Smart Ratio-Based Real-Time PCR Outperform Multiplex Ligation-Dependent Probe Amplification in Prenatal Diagnosis for Spinal Muscular Atrophy: Bench to Bedside Diagnosis

Tuncel G., Sanlidag B., Baris T., Dirik E., Ergoren M. Ç., Temel Ş. G.

GLOBAL MEDICAL GENETICS , cilt.10, sa.3, ss.240-246, 2023 (ESCI)

35. A Multicenter Study of Genotype Variation/Demographic Patterns in 2475 Individuals Including 1444 Cases With Breast Cancer in Turkey.

Boga I., Ozemri Sag S., Duman N., Ozdemir S. Y., Ergoren M. C., Dalci K., et al.

European journal of breast health , cilt.19, sa.3, ss.235-252, 2023 (ESCI, Scopus, TRDizin)

36. Human inherited complete STAT2 deficiency underlies inflammatory viral diseases

Bucciol G., Moens L., Ogishi M., Rinchai D., Matuozzo D., Momenilandi M., et al.

JOURNAL OF CLINICAL INVESTIGATION , cilt.133, sa.12, 2023 (SCI-Expanded, Scopus)

37. Interfering with Interferons: A Critical Mechanism for Critical COVID-19 Pneumonia

Su H. C., Jing H., Zhang ., Human Genetic Effort M. O. T. C., Temel Ş. G., Casanova J.

ANNUAL REVIEW OF IMMUNOLOGY , sa.41, ss.561-585, 2023 (SCI-Expanded)

38. PGT for structural chromosomal rearrangements in 300 couples reveals specific risk factors but an interchromosomal effect is unlikely

Ogur C., Kahraman S., Grif D. K., Yapan C. C., Tufekci M. A., Cetinkaya M., et al.

REPRODUCTIVE BIOMEDICINE ONLINE , cilt.46, sa.4, ss.713-727, 2023 (SCI-Expanded, Scopus)

39. Inherited and acquired errors of type I interferon immunity govern susceptibility to COVID-19 and multisystem inflammatory syndrome in children

Buccio G., Abel L., Al-Muhsen S., Aiuti A., Al-Mulla F., Andreakos E., et al.

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY: IN PRACTICE , cilt.151, sa.4, ss.832-840, 2023 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

40. Contribution of genotypes in Prothrombin and Factor V Leiden to COVID-19 and disease severity in patients at high risk for hereditary thrombophilia.

Kiraz A., Sezer O., Alemdar A., Canbek S., Duman N., Bisgin A., et al.

Journal of medical virology , cilt.95, 2023 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

41. A Novel PHEX Mutation in A Case Followed Up with A Diagnosis of X-linked Hypophosphatemic Rickets

DEMİRBAŞ Ö., EREN E., DENKBOY ÖNGEN Y., ÖZEMRİ SAĞ Ş., GÜRKAN H., TEMEL Ş. G.

GUNCEL PEDIATRI , cilt.21, sa.1, ss.98-101, 2023 (ESCI, Scopus)

42. Autoantibodies against type I IFNs in patients with critical influenza pneumonia.

Zhang Q., Pizzorno A., Miorin L., Bastard P., Gervais A., Le Voyer T., et al.

The Journal of experimental medicine , cilt.219, sa.11, 2022 (SCI-Expanded, Scopus)

43. "Analysis of ACE2 and TMPRSS2 coding variants as a risk factor for SARS-CoV-2 from 946 whole exome sequencing data in the Turkish Population.

Duman N., Tuncel G., Bisgin A., Bozdogan S. T., Sag S. O., Gul S., et al.

Journal of medical virology , cilt.94, sa.11, ss.5225-5243, 2022 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

44. Characterization of a Novel Frameshift Mutation Within the TRPS1 Gene Causing Trichorhinophalangeal Syndrome Type 1 in a Kindred Cypriot Family.

Ergoren M. C., Akcan N., Manara E., Paolacci S., Fahrioğlu U., Betmezoglu M., et al.

Applied immunohistochemistry & molecular morphology : AIMM , cilt.30, sa.9, ss.635-639, 2022 (SCI-Expanded, Scopus)

45. Decoding the Human Genetic and Immunological Basis of COVID-19 mRNA Vaccine-Induced Myocarditis.

Bolze A., Mogensen T. H., Zhang S., Abel L., Andreakos E., Arkin L. M., et al.

Journal of clinical immunology , cilt.42, ss.1354-1359, 2022 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

46. The expression profile of WNT/beta-catanin signalling genes in human oocytes obtained from polycystic ovarian syndrome (PCOS) patients

Ismail A. B., Naji M. '. S., Tuncel G., Ozbakir B., TEMEL Ş. G., Tulay P., et al.

ZYGOTE , cilt.30, sa.4, ss.536-542, 2022 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

47. Increased radiosensitivity and impaired DNA repair in patients with STAT3-LOF and ZNF341 deficiency, potentially contributing to malignant transformations.

Cekic Ş., Huriyet H., Hortoglu M., Kasap N., Ozen A., Karakoc-Aydiner E., et al.

Clinical and experimental immunology , cilt.209, sa.1, ss.83-89, 2022 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

48. Association of the 5HTR2C gene Ser23 variation with childhood allergic asthma

Temel Ş. G., Ergoren M. C., Yilmaz I., Yuruker O., Cobanogullari H., Tosun O., et al.

EUROBIOTECH JOURNAL , cilt.6, sa.3, ss.126-132, 2022 (ESCI, Scopus) Sürdürülebilir Kalkınma

49. Germline landscape of BRCAs by 7-site collaborations as a BRCA consortium in Turkey.

Bisgin A., Sag S. O., Dogan M. E., Yildirim M. S., Gumus A. A., Akkus N., et al.

Breast (Edinburgh, Scotland) , cilt.65, sa.-, ss.15-22, 2022 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

50. Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium.

Dundar M., Fahrioglu U., Yildiz S. H., Bakir-Gungor B., Temel Ş. G., Akin H., et al.

Functional & integrative genomics , cilt.22, sa.3, ss.291-315, 2022 (SCI-Expanded, Scopus)

51. Characterizing a de novo TRIO gene variant as a likely cause of autosomal dominant Intellectual developmental disorder type 63 with macrocephaly

Tekguc D. C., Tuncel G., Karanlik S., Koreken N., TEMEL Ş. G., Ergoren M. C.

EUROPEAN JOURNAL OF HUMAN GENETICS , cilt.30, sa.SUPPL 1, ss.255, 2022 (SCI-Expanded)

52. Novel homozygous missense mutation in NARS1 gene: A new neurodevelopmental disorder with microcephaly

TEMEL Ş. G., ÖZEMRİ SAĞ Ş., EREN E., Deniz E.

EUROPEAN JOURNAL OF HUMAN GENETICS , cilt.30, sa.SUPPL 1, ss.352, 2022 (SCI-Expanded)

53. Structural analysis of M1AP variants associated with severely impaired spermatogenesis causing male infertility

Gerlevik U., Ergoren M. C., SEZERMAN O. U., TEMEL Ş. G.

PEERJ , cilt.10, 2022 (SCI-Expanded, Scopus)

54. Consistency of variant interpretations among bioinformaticians and clinical geneticists in hereditary cancer panels.

Agaoglu N. B., Unal B., Akgun Dogan O., Kanev M. O., Zolfagharian P., Ozemri Sag S., et al.

European journal of human genetics : EJHG , cilt.30, ss.378-383, 2022 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

55. Determining T and B Cell development by TREC/KREC analysis in primary immunodeficiency patients and healthy controls

Senturk G., Ng Y. Y., Eltan S. B., Baser D., Ogulur I., ALTINDİREK D., et al.

SCANDINAVIAN JOURNAL OF IMMUNOLOGY , cilt.95, sa.3, 2022 (SCI-Expanded, Scopus)

56. Balanced chromosomal rearrangements offer insights into coding and noncoding genomic features associated with developmental disorders

Temel Ş. G.

medrxiv , cilt.1, sa.1, ss.1-15, 2022 (Hakemsiz Dergi)

57. Birt-Hogg-Dube Syndrome: Diagnostic Journey of Three Cases from Skin to Gene

Hasal E., Baskan E. B., Gul S., Dilektasli A. G., Sag S. O., Adird Ş., et al.

ANNALS OF DERMATOLOGY , cilt.34, sa.1, ss.66-71, 2022 (SCI-Expanded, Scopus)

58. Nanobubble Ozone Stored in Hyaluronic Acid Decorated Liposomes: Antibacterial, Anti-SARS-CoV-2 Effect and Biocompatibility Tests

Sabanci A. U., Alkan P. E., Mujde C., Polat H. U., Erguzeloglu C. O., BİŞGİN A., et al.

INTERNATIONAL JOURNAL OF NANOMEDICINE , cilt.17, ss.351-379, 2022 (SCI-Expanded, Scopus)

59. Mevalonic Aciduria Presenting with Recurrent Perianal Fistulas

Köse H., Çekiç Ş., Temel Ş. G., Özemri Sağ Ş., Kılıç Gültekin S. Ş.

Türkiye Klinikleri Journal of Case Reports , cilt.30, sa.2, ss.136-141, 2022 (Hakemli Dergi)

60. Psoriasis and 5HT-R2C Gene Polymorphism: Association between Clinical, Demographic and Therapeutic Parameters in the Turkish Population.

Temel Ş. G., Yazici S., Yilmaz İ., Tosun Ö., Cerkez Ergoren M., Bulbul Baskan E., et al.

Acta dermatovenerologica Croatica : ADC , cilt.29, sa.3, ss.121-126, 2021 (SCI-Expanded) Sürdürülebilir Kalkınma

61. BRCA Variations Risk Assessment in Breast Cancers Using Different Artificial Intelligence Models

Senturk N., Tuncel G., Dogan B., Aliyeva L., Dundar M. S., Ozemri Sag S., et al.

GENES , cilt.12, sa.11, 2021 (SCI-Expanded, Scopus)

62. Associations of the ITGB3 gene rs5918T > C and the APOA1 gene rs1799837C > T markers with serum lipid metabolism in coronary artery disease patients

Conkbayir C., Ergoren M., Cobanogullari H., Balcioglu O., Abras I., Eminsel T., et al.

EUROPEAN HEART JOURNAL , cilt.42, ss.3192, 2021 (SCI-Expanded, Scopus)

63. Psychomotor Delay in a Child with FGFR3 G380R Pathogenic Mutation Causing Achondroplasia

Ergoren M. C., EREN E., Manara E., Paolacci S., Tulay P., ÖZEMRİ SAĞ Ş., et al.

GLOBAL MEDICAL GENETICS , cilt.8, sa.3, ss.100-103, 2021 (ESCI)

64. Identification of a Novel De Novo COMP Gene Variant as a Likely Cause of Pseudoachondroplasia.

Tuncel G., Akcan N., Gul S., Sag S. O., Bundak R., Mocan G., et al.

Applied immunohistochemistry & molecular morphology : AIMM , cilt.29, ss.546-550, 2021 (SCI-Expanded)

65. Mitochondrial estrogen receptors alter mitochondrial priming and response to endocrine therapy in breast cancer cells.

Karakas B., Aka Y., Giray A., Temel Ş. G., Acikbas U., Basaga H., et al.

Cell death discovery , cilt.7, ss.189, 2021 (SCI-Expanded, Scopus)

66. A Homozygous Synonymous Variant Likely Cause of Severe Ciliopathy Phenotype

Tuncel G., Kaymakamzade B., Engindereli Y., TEMEL Ş. G., Ergoren M. C.

GENES , cilt.12, sa.6, 2021 (SCI-Expanded, Scopus)

67. The Story of a Ship Journey, Malaria, and the HBB Gene IVS-II-745 Mutation: Circassian Immigration to Cyprus

Ergoren M. C., TEMEL Ş. G., Mocan G., DÜNDAR M.

GLOBAL MEDICAL GENETICS , cilt.8, sa.2, ss.69-71, 2021 (ESCI) Sürdürülebilir Kalkınma

68. Natural selection at work? Vitamin D deficiency rates and rising health problems in young Turkish Cypriot professionals.

Kandemiş E., Tuncel G., Fahrioğlu U., Temel Ş. G., Mocan G., Ergören M. Ç.

Central European journal of public health , cilt.29, ss.130-133, 2021 (SCI-Expanded, SSCI, Scopus) Sürdürülebilir Kalkınma

69. MUTATION STATUS AND IMMUNOHISTOCHEMICAL CORRELATION OF EGFR MUTATIONS IN GASTROINTESTINAL STROMAL TUMORS

Ozkayalar H., Ergoren M. C., Tuncel G., Kurt S., Cevik E., Sag O. S., et al.

BALKAN JOURNAL OF MEDICAL GENETICS , cilt.24, sa.1, ss.67-71, 2021 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

70. Ailesel Akdeniz Ateşi Hastalarında MEFV Gen Mutasyonunun Sıklığı ve Dağılımı: Tek Merkez Deneyimi

ÖZEMRİ SAĞ Ş., ALEMDAR A., Aliyeva L., KAYA N., TEMEL Ş. G.

SDÜ Tıp Fakültesi Dergisi , cilt.28, sa.1, ss.85-91, 2021 (Hakemli Dergi) Sürdürülebilir Kalkınma

71. A Rare Cyctic Lung Disease: Birt-Hogg-Dubé Syndrome

Ömer D., Görek Dilektaşlı A., Bülbül Başkan E., Temel Ş. G., Uzaslan A. E., Özemri Sağ Ş.

Turkiye Klinikleri Archives of Lung , cilt.20, 2021 (Hakemli Dergi)

72. The importance of multiple gene analysis for diagnosis and differential diagnosis in charcot marie tooth disease

YALÇINTEPE S., GÜRKAN H., DEMİR S., ÖZEMRİ SAĞ Ş., ATLI E. İ., ATLI E., et al.

Turkish Neurosurgery , cilt.31, ss.888-895, 2021 (SCI-Expanded, Scopus)

73. Evaluation of bioaccessibility and functional properties of kombucha beverages fortified with different medicinal plant extracts

Tamer C. E., Temel Ş. G., Suna S., Karabacak A., Ozcan T., Ersan L. Y., et al.

TURKISH JOURNAL OF AGRICULTURE AND FORESTRY , cilt.45, sa.1, ss.13-32, 2021 (SCI-Expanded, Scopus, TRDizin)

74. Targeted High-Throughput Sequencing Analysis Results of Osteogenesis Imperfecta Patients from Different Regions of Turkey.

DEMİR S., YALÇINTEPE S., ATLI E. İ., Sanri A., Yildirim R., TÜTÜNCÜLER F., et al.

Genetic testing and molecular biomarkers , cilt.25, sa.1, ss.59-67, 2021 (SCI-Expanded, Scopus)

75. Functional coding/non-coding variants in EGFR, ROS1 and ALK genes and their role in liquid biopsy as a personalized therapy.

Ergoren M., Cobanogulları H., Temel Ş. G., Mocan G.

Critical reviews in oncology/hematology , cilt.156, ss.103113, 2020 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

76. Diagnostic Efficiency of Clinical Exome Solution Panel in patients with Hearing loss/Hereditary Deafness by using Next Generation Sequencing

Temel Ş. G., Alemdar A., Yılmaz M., Aliyeva L., Sag S. O.

EUROPEAN JOURNAL OF HUMAN GENETICS , cilt.28, ss.190-191, 2020 (SCI-Expanded)

77. CC2D1A AS A NOVEL CILIOPATHY GENE

Sakin I., Tuncel G., Sag S. O., KAPLAN O. İ., Khokha M. K., Ergoren M. C., et al.

EUROPEAN JOURNAL OF HUMAN GENETICS , cilt.28, ss.454, 2020 (SCI-Expanded, Scopus)

78. Unique combination and in silico modeling of biallelic POLR3A variants as a cause of Wiedemann-Rautenstrauch syndrome

TEMEL Ş. G., Ergoren M. C., Manara E., Paolacci S., Tuncel G., Gul S., et al.

EUROPEAN JOURNAL OF HUMAN GENETICS , cilt.28, sa.12, ss.1675-1680, 2020 (SCI-Expanded, Scopus)

79. Biallelic mutations in M1AP are associated with meiotic arrest, severely impaired spermatogenesis and male infertility

Friedrich C., TEMEL Ş. G., Nagirnaja L., Oud M. S., Lopes A. M., van der Heijden G. W., et al.

EUROPEAN JOURNAL OF HUMAN GENETICS , cilt.28, ss.1002-1003, 2020 (SCI-Expanded)

80. Identification of unsolved rare genetic cases of North Cyprus

Ergoren M. C., Manara E., Paolacci S., Tuncel G., TEMEL Ş. G., Mocan G., et al.

EUROPEAN JOURNAL OF HUMAN GENETICS , cilt.28, ss.944, 2020 (SCI-Expanded)

81. Inconsistency of Karyotyping and Array Comparative Genomic Hybridization (aCGH) in a Mosaic Turner Syndrome Case

Tulay P., Ergoren M. C., Alkaya A., Yayci E., ÖZEMRİ SAĞ Ş., TEMEL Ş. G.

GLOBAL MEDICAL GENETICS , cilt.7, sa.4, ss.128-132, 2020 (ESCI)

82. Characterization and in silico analyses of the BRCA1/2 variants identified in individuals with personal and/or family history of BRCA-related cancers

Pirim D., Kaya N., Yıldırım E., Sag S., Temel Ş. G.

INTERNATIONAL JOURNAL OF BIOLOGICAL MACROMOLECULES , cilt.162, ss.1166-1177, 2020 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

83. A rare case of fructose-1,6-bisphosphatase deficiency: a delayed diagnosis story

Ergoren M. C., Tuncel G., ÖZEMRİ SAĞ Ş., TEMEL Ş. G.

TURKISH JOURNAL OF BIOCHEMISTRY-TURK BIYOKIMYA DERGISI , cilt.45, sa.5, ss.613-616, 2020 (SCI-Expanded, Scopus, TRDizin)

84. Bi-allelic Mutations in M1AP Are a Frequent Cause of Meiotic Arrest and Severely Impaired Spermatogenesis Leading to Male Infertility

Wyrwoll M. J., TEMEL Ş. G., Nagirnaja L., Oud M. S., Lopes A. M., van der Heijden G. W., et al.

AMERICAN JOURNAL OF HUMAN GENETICS , cilt.107, sa.2, ss.342-351, 2020 (SCI-Expanded, Scopus)

85. THE EXPRESSION OF VANILLOID RECEPTORSUBTYPE-1 (VR1) IN GONADOTROPIN-RELEASINGHORMONE IN RAT BRAIN

TEMEL Ş. G.

SDU Tıp Fakültesi Dergisi , cilt.28, sa.2, ss.1-6, 2020 (Hakemli Dergi)

86. Strong Association between Serotonin Transporter 5-HTTVNTR Variant and Psychoactive Substance (Nicotine) Use in the Turkish Cypriot Population

Kandemis E., Tuncel G., Asut O., TEMEL Ş. G., Ergoren M. C.

CURRENT DRUG METABOLISM , cilt.21, sa.6, ss.466-470, 2020 (SCI-Expanded)

87. European recommendations integrating genetic testing into multidisciplinary management of sudden cardiac death

Fellmann F., van El C. G., Charron P., Michaud K., Howard H. C., Boers S. N., et al.

EUROPEAN JOURNAL OF HUMAN GENETICS , cilt.27, sa.12, ss.1763-1773, 2019 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

88. **A novel homozygous nonsense mutation in CAST associated with PLACK syndrome**

TEMEL Ş. G., Karakas B., Seker Ü., Turkgenc B., Zorlu O., Saricaoglu H., et al.

CELL AND TISSUE RESEARCH , sa.2, ss.267-277, 2019 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

89. Identification of a Novel Mitochondrial DNA Sequence Variation within the Human Mitochondrial DNA Control Region in a Population of Aegean Population

KÖSELER A., TEMEL Ş. G., Ergoren M. C.

ERCIYES MEDICAL JOURNAL , cilt.41, sa.2, ss.158-163, 2019 (ESCI)

90. Investigation of KCNQI polymorphisms as biomarkers for cardiovascular diseases in the Turkish Cypriots for establishing preventative medical measures

Tulay P., Temel Ş. G., Ergoren M. C.

INTERNATIONAL JOURNAL OF BIOLOGICAL MACROMOLECULES , cilt.124, ss.537-540, 2019 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

91. Identification and characterization of a novel FBN1 gene variant in an extended family with variable clinical phenotype of Marfan syndrome

Ergoren M. C., Turkgenc B., Terali K., Rodoplu O., Verstraeten A., Van Laer L., et al.

CONNECTIVE TISSUE RESEARCH , cilt.60, sa.2, ss.146-154, 2019 (SCI-Expanded, Scopus)

92. The use of ACE INDEL polymorphism as a biomarker of coronary artery Chock disease (CAD) in humans with Mediterranean-style diet

Temel Ş. G., Ergoren M. C., Yilmaz I., Oral H. B.

INTERNATIONAL JOURNAL OF BIOLOGICAL MACROMOLECULES , cilt.123, ss.576-580, 2019 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

93. The association between the chromosome 9p21 CDKN2B-AS1 gene variants and the lipid metabolism: A pre-diagnostic biomarker for coronary artery disease

TEMEL Ş. G., Ergoren M. C.

ANATOLIAN JOURNAL OF CARDIOLOGY , cilt.21, sa.1, ss.31-38, 2019 (SCI-Expanded, Scopus, TRDizin)

94. Arterial tortuosity syndrome: 40 new families and literature review.

Beyens A., Albuisson J., Boel A., Al-Essa M., Al-Manea W., Bonnet D., et al.

Genetics in medicine : official journal of the American College of Medical Genetics , cilt.20, sa.10, ss.1236-1245, 2018 (SCI-Expanded, Scopus)

95. STUB1 polyadenylation signal variant AACAAA does not affect polyadenylation but decreases STUB1 translation causing SCAR16

Turkgenc B., Sanlidag B., Eker A., Giray A., Kutuk O., Yakicier C., et al.

HUMAN MUTATION , cilt.39, sa.10, ss.1344-1348, 2018 (SCI-Expanded, Scopus)

96. Phenotype does not necessarily follow genotype: Identification of an incompletely penetrant novel POLR1D variant as a likely cause of Treacher Collins syndrome

Sah H., Sanlidag B., Manara E., Terali K., Paolacci S., Mocan G., et al.

FEBS OPEN BIO , cilt.8, ss.143, 2018 (SCI-Expanded, Scopus)

97. Characterization and in silico modelling of bi-allelic POLR3A mutations as a cause of Wiedemann-Rautenstrauch syndrome

Betmezoglu M., Terali K., Manara E., Mocan G., Temel Ş. G., Bertelli M., et al.

FEBS OPEN BIO , cilt.8, ss.143-144, 2018 (SCI-Expanded, Scopus)

98. Homozygous, and compound heterozygous mutation in 3 Turkish family with Jervell and Lange-Nielsen syndrome: case reports

Uysal F., Turkgenc B., Toksoy G., BOSTAN Ö. M., Evke E., Uyguner O., et al.

BMC MEDICAL GENETICS , cilt.18, 2017 (SCI-Expanded, Scopus)

99. Biphasic ROS production, p53 and BIK dictate the mode of cell death in response to DNA damage in colon cancer cells

Kutuk O., Aytan N., Karakas B., Kurt A. G., Acikbas U., TEMEL Ş. G., et al.

PLOS ONE , cilt.12, sa.8, 2017 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

100. A Novel TBX19 Gene Mutation in a Case of Congenital Isolated Adrenocorticotropic Hormone Deficiency Presenting with Recurrent Respiratory Tract Infections

Akcan N., SERAKINCI N., Turkgenc B., Bundak R., Bahceciler N., Temel Ş. G.

FRONTIERS IN ENDOCRINOLOGY , cilt.8, 2017 (SCI-Expanded, Scopus)

101. Letter to the editor regarding the article "A case of hypertrophic and dilated cardiomyopathic sudden cardiac death: de novo mutation in TTN and SGCD genes"

Ergoren M. C., Temel S. G.

ANATOLIAN JOURNAL OF CARDIOLOGY , cilt.17, sa.1, ss.76-77, 2017 (SCI-Expanded)

102. Mutations in PIEZO2 Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5

McMillin M. J., Beck A. E., Chong J. X., Shively K. M., Buckingham K. J., Gildersleeve H. I. S., et al.

AMERICAN JOURNAL OF HUMAN GENETICS , cilt.94, sa.5, ss.734-744, 2014 (SCI-Expanded, Scopus)

103. Duplication of SOX9 is not a common cause of 46,XX testicular or 46,XX ovotesticular DSD

TEMEL Ş. G., Cangul H.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM , cilt.26, ss.191, 2013 (SCI-Expanded, Scopus)

104. Turkish perspective of Jervell and Lange-Nielsen syndrome.

TEMEL Ş. G., Bostan Ö. M., Cangul H., ÇİL E.

Annals of Indian Academy of Neurology , cilt.16, sa.1, ss.129-30, 2013 (SCI-Expanded, Scopus)

105. Jervell and Lange-Nielsen syndrome: homozygous missense mutation of KCNQ1 in a Turkish family.

Bostan Ö. M., TEMEL Ş. G., Cangul H., Archer C. N. S., ÇİL E.

Pediatric cardiology , cilt.34, sa.8, ss.2063-7, 2013 (SCI-Expanded, Scopus)

106. Aven blocks DNA damage-induced apoptosis by stabilising Bcl-xL

KÜTÜK Ö., TEMEL Ş. G., TOLUNAY Ş., Basaga H.

EUROPEAN JOURNAL OF CANCER , cilt.46, sa.13, ss.2494-2505, 2010 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

107. Effects of citicoline used alone and in combination with mild hypothermia on apoptosis induced by focal cerebral ischemia in rats.

Sahin S., Alkan T., Temel Ş. G., Tureyen K., Tolunay S., Korfali E.

Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia , cilt.17, sa.2, ss.227-31, 2010 (SCI-Expanded, Scopus)

108. Cyclooxygenase-2 expression in astrocytes and microglia in human oligodendroglioma and astrocytoma

Temel Ş. G., Kahveci Z.

JOURNAL OF MOLECULAR HISTOLOGY , cilt.40, ss.369-377, 2009 (SCI-Expanded, Scopus)

109. Immunohistochemical detection of p53 protein in basal cell skin cancer after microwave-assisted antigen retrieval

Evke E., Minbay F. Z., Temel Ş. G., Kahveci Z.

JOURNAL OF MOLECULAR HISTOLOGY , cilt.40, sa.1, ss.13-21, 2009 (SCI-Expanded, Scopus) Sürdürülebilir Kalkınma

110. Preclinical safety evaluation of intravitreal injection of full-length humanized vascular endothelial growth factor antibody in rabbit eyes.

Inan U. U., Avci B., Kusbeci T., Kaderli B., Avci R., Temel Ş. G.

Investigative ophthalmology & visual science , cilt.48, sa.4, ss.1773-81, 2007 (SCI-Expanded, Scopus)

111. Extended pedigree with multiple cases of XX sex reversal in the absence of SRY and of a mutation at the SOX9 locus

Temel Ş. G., Gulten T., Yakut T., Saglam H., Kilic N., Bausch E., et al.

Sexual Development , cilt.1, sa.1, ss.24-34, 2006 (Scopus)

112. Microwave-assisted antigen retrieval and incubation with cox-2 antibody of archival paraffin-embedded human oligodendroglioma and astrocytomas.

Temel Ş. G., Minbay F. Z., Kahveci Z., Jennes L.

Journal of neuroscience methods , cilt.156, ss.154-60, 2006 (SCI-Expanded, Scopus)

113. A new material for prevention of epidural fibrosis after laminectomy: oxidized regenerated cellulose (interceed), an absorbable barrier.

Temel Ş. G., Ozturk C., Temiz A., Ersozlu S., Aydinli U.

Journal of spinal disorders & techniques , cilt.19, sa.4, ss.270-5, 2006 (SCI-Expanded, Scopus)

114. A simple and rapid microwave-assisted hematoxylin and eosin staining method using 1,1,1 trichloroethane as a dewaxing and a clearing agent.

Temel Ş. G., Noyan S., Cavusoglu I., Kahveci Z.

Biotechnic & histochemistry : official publication of the Biological Stain Commission , cilt.80, ss.123-32, 2005 (SCI-Expanded, Scopus)

115. Mikrodalga ışınımının sıçan karaciğer ve böbrek dokuklarının preparasyonunda kullanımı

TEMEL Ş. G., ERSOY S., KAHVECİ Z.

Bursa Devlet Hastanesi Bülteni , cilt.19, sa.2, ss.83-91, 2004 (Hakemli Dergi)

116. Mikrodalga ışınımının sıçan karaciğer ve böbrek dokularının preparasyonunda kullanımı.

TEMEL Ş. G., ERSOY S., KAHVECİ Z.

Bursa Devlet Hastanesi Bülteni , cilt.19, sa.2, ss.83-91, 2004 (Hakemli Dergi)

117. Expression of estrogen receptor-alpha and cFos in norepinephrine and epinephrine neurons of young and middle-aged rats during the steroid-induced luteinizing hormone surge

TEMEL Ş. G., Lin W., Lakhlani S., Jennes L.

ENDOCRINOLOGY , cilt.143, sa.10, ss.3974-3983, 2002 (SCI-Expanded, Scopus)

118. Rapid polymerisation with microwave irradiation for transmission electron microscopy.

Cavusoglu I., Minbay F. Z., Temel Ş. G., Noyan S.

European journal of morphology , cilt.39, sa.5, ss.313-7, 2001 (SCI-Expanded, Scopus)

Hakemli Bilimsel Toplantılarda Yayımlanmış Bildiriler 107

1. From sequence to significance: functional insights into rare genetic disorders

Temel Ş. G.

EUROPEAN BIOTECHNOLOGY CONGRESS 2025, Tirane, Arnavutluk, 11 - 13 Eylül 2025, ss.9, (Özet Bildiri)

2. Decoding Cystic Fibrosis in Turkish Patients: Multi-Omics Insights into Genotype-Phenotype Correlation

Nalbant N., Temel Ş. G., Korkmaz M., Sapan N., Ozkan T. M., Ozgur T., et al.

EUROPEAN BIOTECHNOLOGY CONGRESS 2025, Tirane, Arnavutluk, 11 - 13 Eylül 2025, ss.20, (Özet Bildiri)

3. Transcriptomic Analysis of GLUT10 deficiency in Arterial Tortuosity Syndrome

Nalbant N., Budak ., Uysal ., Ozemri Sag S., Temel Ş. G.

ASHG 2025 Annual Meeting, Massachusetts, Amerika Birleşik Devletleri, 14 - 18 Ekim 2025, ss.2635-2636, (Özet Bildiri)

4. Genotype-Phenotype Associations in Retinitis Pigmentosa: Insights from a Single-Center Study in the Marmara Region

Temel Ş. G., Erdem D., Arac D. G., Aliyeva L., Sag S. Ö., Doganay S.

ASHG 2025 Annual Meeting , Massachusetts, Amerika Birleşik Devletleri, 14 Ekim - 18 Aralık 2025, ss.2861, (Özet Bildiri)

5. Investigating the oncogenic potential of alcohol-related microbial alterations through in silico analysis

Doğan B., Temel Ş. G., Pirim D.

European Biotechnology Congress 2025, Tirane, Arnavutluk, 11 - 13 Eylül 2025, cilt.9, sa.13, ss.19-20, (Özet Bildiri)

6. Single-Center Experience on Genotype-Phenotype Correlation in Retinitis Pigmentosa Cases in the Marmara Region

Temel Ş. G., Erdem D., Aracı D. G., Aliyeva L., Özemri Sag S., Doganay S.

ESHG Conference 2025, Milan, İtalya, 24 - 27 Mayıs 2025, (Yayınlanmadı)

7. The Path to the Product with a Two-Way Concept from Bench to Bedside and Vice Versa

TEMEL Ş. G.

European Biotechnology Congress 2024, İstanbul, Türkiye, 2 - 05 Ekim 2024, (Tam Metin Bildiri)

8. CC2D1A causes ciliopathy, intellectual disability, autism, heterotaxy, renal dysplasia and abnormal CSF flow

Temel Ş. G.

American Society of Human Genetics, Colorado, Amerika Birleşik Devletleri, 5 - 09 Kasım 2024, ss.718-719, (Özet Bildiri)

9. Advancing Cancer Research: Evaluating Immunotherapy Efficacy Using Patient-Derived Organoids

Ertürk Bakır E., Arı F., Akgün O., Yıldız Y., Yöyen Ermiş D., Dombaz F., et al.

16th National and 2nd International Congress of Histology and Embryology, Sakarya, Türkiye, 26 - 28 Eylül 2024, (Özet Bildiri)

10. Retrospective Investigation of the Frequency of Pathogenic and Likely Pathogenic Variants in 81 Genes Associated with ACMG Secondary Findings from 1600 Clinical Exome Sequencing

Temel Ş. G., Pir M. S., İffet Şahin F., Özemri Sağ Ş., Terzi Y. K.

57th European Society of Human Genetics (ESHG) Conference, Berlin, Almanya, 1 - 04 Haziran 2024, ss.1196-1197, (Özet Bildiri)

11. Screening of Severe Combined Immunodeficiency Disease (SCID) in newborn Guthrie Cards by Determining the TREC copy numbers

Önder G., BEKEN S., KUBAR A., Doğan Cosar O., Korkmaz A., Sonmezalp C. Z., et al.

Recent Advances in Primary Immunodysregulation Disorders (RAPID) Meeting – May 2024, Qatar, 9 - 10 Mayıs 2024, (Özet Bildiri)

12. THe Effect of NOSN on the Wnt/β-Catenin Pathway Genes in MCF-7 Breast Cancer Cell Line

Nassem M. S., Sabanci U., Kandemis E., Tuncel G., Temel Ş. G., Ergoren M. C.

EUROPEAN BIOTECHNOLOGY CONGRESS 2024, İstanbul, Türkiye, 3 - 05 Eylül 2024, ss.27, (Özet Bildiri)

13. Ensuring research ıntegrity: the critical role of cell line authen- tication and mycoplasma testing in biotechnology

Alemdar A., Temel Ş. G.

EUROPEAN BIOTECHNOLOGY CONGRESS 2024, İstanbul, Türkiye, 3 - 05 Ekim 2024, ss.29, (Özet Bildiri)

14. Detection of actionable variants using liquid biopsy samples for therapeutic approach

Doğan B., Kaya N., Nalbant N., Alemdar A., Aliyeva L., Özemri Sağ Ş., et al.

American Society of Human Genetics, Washington, Kiribati, 01 Kasım 2023, (Özet Bildiri) Sürdürülebilir Kalkınma

15. Melanom Hastalarında BRAF V600 Mutasyon Prevalansı ve BRAF Mutasyonu ile Klinikopatolojik Özellikler Arasındaki İlişki

ÖZTÜRK F., ELMAS S., BÜLBÜL BAŞKAN E., AYDOĞAN K., YAZİCİ S., BALABAN ADIM Ş., et al.

31. Ulusal Dermatoloji Kongresi, Antalya, Türkiye, 18 - 22 Ekim 2023, (Özet Bildiri)

16. CC2D1A AS A NOVEL AUTISM AND CILIOPATHY GENE: IS AUTISM A CILIOPATHY DISORDER?

TEMEL Ş. G.

EUROPEAN BIOTECHNOLOGY CONGRESS 2023, Slovenya, 4 - 06 Ekim 2023, (Özet Bildiri)

17. Dermatolojik hastalıkların genetik tanısında kullanılan yöntemler

TEMEL Ş. G.

Güz Toplantıları: Dermatolojik tedavide yeni dönem, Türkiye, 14 - 17 Eylül 2023, (Özet Bildiri)

18. Evaluation of Immunotherapy Treatment Approaches in Organotypic Models

AKGÜN O., YILDIZ Y., ERTÜRK E., YÖYEN ERMİŞ D., DOMBAZ F., ORAL H. B., et al.

Uluslararası katılımlı 26. Ulusal Elektron Mikroskopi Kongresi, Eskişehir, Türkiye, 20 - 23 Eylül 2023, ss.222, (Özet Bildiri)

19. SMA genetiği ve genetik danışmanlık

TEMEL Ş. G.

8. Uluslararası Erciyes Tıp Tıbbi Genetik Kongresi, Türkiye, 21 - 23 Eylül 2023, (Özet Bildiri)

20. Prenatal and preimplantation genetic diagnosis: challenges, current knowledge and future directions.

TEMEL Ş. G.

The First International Congress of Uzbekistan Association of Reproductive Medicine, Tashkent, Özbekistan, 28 - 29 Nisan 2023, (Özet Bildiri)

21. Genetic Aspects of Male Infertility

TEMEL Ş. G.

The First International Congress of Uzbekistan Association of Reproductive Medicine, Tashkent, Özbekistan, 28 Nisan - 29 Mart 2023, (Özet Bildiri)

22. MICROWAVE ASSISTED IRRADIATION IN TISSUE PREPARATION: FROM FIXATION TO STAINING

Temel Ş. G.

11. ANADOLU ULUSLARARASI UYGULAMALI BİLİMLER KONGRESİ, Diyarbakır, Türkiye, 29 Aralık 2022, ss.1-13, (Tam Metin Bildiri)

23. A new neurodevelopmental disorder with microcephaly and neural tube defect: Loss of Nars1leads to microcephaly and neural tube defect

TEMEL Ş. G., ERGÖREN M. Ç., EREN E., ÖZEMRİ SAĞ Ş., ÇELİK FUSS A., GÜL Ş., et al.

ASHG 2022, Amerika Birleşik Devletleri, 25 - 29 Ekim 2022, (Özet Bildiri)

24. Next Generation Solutions in Diagnosis of Ciliopathy: From Functional Genomics to Artificial Intelligence-Based Approaches

TEMEL Ş. G.

EUROPEAN BIOTECHNOLOGY CONGRESS 2022, 05 Ekim 2022, (Özet Bildiri)

25. Sequencing and Commercial Intelligent Ratio based Real-Time PCR Outperform Multiplex Ligation-Dependent Probe Amplification in Prenatal Diagnosis for Spinal Muscular Atrophy

TUNCEL DEREBOYLU G., Bostancı A., ŞANLIDAĞ B., DİRİK E., TEMEL Ş. G., ERGÖREN M. Ç.

European Society of Human Genetics Congress 2022, 11 - 14 Haziran 2022, (Özet Bildiri)

26. Investigation of the Release of Growth Factors from Nanofiber Mat Loaded with Apheresis Platelet Concentrate (APC)

Yılmaz H., Aras C., Karaçay M., Altuntuğ Cesur M. İ., Karaca E., Temel Ş. G., et al.

International Congress on Biological and Health Sciences, Afyonkarahisar, Türkiye, 26 Şubat 2022, (Özet Bildiri)

27. Precision Medicine: Liquid Biopsy and Fusion Detection by Next generation sequencing

TEMEL Ş. G.

ERCIYES TIP GENETIK GUNLERI, 16 Eylül 2021, (Özet Bildiri)

28. Use of a Kiosk-Model Self-Triage System for COVID-19 Triage

GÖREK DİLEKTAŞLI A., BÜLBÜL BAŞKAN E., TEMEL Ş. G., DURAK V. A., ARMAĞAN E.

EBTNA 2021, 23 Eylül 2021, (Tam Metin Bildiri) Sürdürülebilir Kalkınma

29. NANOBUBBLE OZONE STORED IN HYALURONIC ACID-DECORATED LIPOSOMAL SOLUTION: A NEW STRATEGY FOR ANTIBACTERIAL & ANTIVIRAL EFFECT

TEMEL Ş. G., ERKAN ALKAN P., MÜJDE C., Polat H., Ornek Erguzeloglu C., BİŞGİN A., et al.

EBTNA 2021, Polonya, 23 Eylül 2021 - 25 Eylül 2022, (Özet Bildiri)

30. Bilgisayar-Tabanlı Bulanık Mantık Yöntemi Kullanılarak Brca-Negatif Kalıtsal eme Kanseri Klinik Ve Varyant Risk Değerlendirmesi

ŞENTÜRK N., VOLKAN P. G., TUNCEL DEREBOYLU G., DOĞAN B., ALİYEVA L., DÜNDAR M. S., et al.

1. Ulusal HematoOnkogenetik Kongresi, Antalya, Türkiye, 25 Kasım 2021, (Özet Bildiri)

31. Germline landscape of BRCAs by 7-site collaborations as a BRCA consortium in Turkey

Bişgin A., Özemri Sağ Ş., Doğan M. E., Yıldırım M. S., Aydın Gümüş A., Akkuş N., et al.

Annual Meeting of American Association of Human Genetics 2021, California, Amerika Birleşik Devletleri, 18 Ekim 2021, (Özet Bildiri)

32. Production and purification of polyclonal antibody: experiences from the lab benchtop

TEMEL Ş. G.

european bıotechnology congress 2020, 24 Eylül 2020, (Özet Bildiri)

33. Identification of human microbiota-related key genes and molecular pathways in colorectal adenocarcinoma by integrative bioinformatics analysis

PİRİM D., DOĞAN B., ÖRNEK ERGÜZELOĞLU C., ALEMDAR A., TEMEL Ş. G.

2nd International Conference on Preventive Medicine, Türkiye, 25 - 28 Kasım 2020, cilt.1, ss.37-38, (Özet Bildiri)

34. Developing fuzzy logic tool for diagnosis of BRCA1 and BRCA2 negative hereditary breast cancer

ERGÖREN M. Ç., VOLKAN P. G., ŞENTÜRK N., TUNCEL DEREBOYLU G., DÜNDAR M., KENANOĞLU S., et al.

American Society of Human Genetics, Washington, Kiribati, 27 Ekim 2020, (Özet Bildiri)

35. Interferometric Detection of Sars-Cov-2 Virus with Thinned Optical Fiber

Alemdar A., Coşkun B., Bayram Ü., Muzafferoğlu N., Karpat F., Temel Ş. G.

ASGH 2020 American Society of Human Genetics, Maryland, Amerika Birleşik Devletleri, 27 Ekim 2020 - 30 Ocak 2021, ss.1, (Özet Bildiri) Sürdürülebilir Kalkınma

36. Analysis 1268 breakpoints from balanced chromosomal abnormalities reveals patterns of three dimensional reorganization associated with human developmental anomalies

Lowther C., Julia M., MM M., Bak M., Collins R., Brand H., et al.

ASHG 2019, 15 - 19 Ekim 2020, (Özet Bildiri)

37. In Silico Approach to Melanoma and Long Non-Coding RNAs

Doğan B., Özemri Sağ Ş., Temel Ş. G.

1st Bursa International Genetics Days: Dermatogenetics Symposium, Bursa, Türkiye, 9 - 11 Ocak 2020, cilt.31, ss.72-73, (Tam Metin Bildiri)

38. Analysis of Alterations Between Variant Annotations in Clinvar Datasets

Alemdar A., Dedeoğlu B., Örnek C., Özcan G., Temel Ş. G.

1st Bursa International Genetics Days: Dermatogenetics Symposium, Bursa, Türkiye, 9 - 11 Ocak 2020, cilt.32, sa.2, (Özet Bildiri)

39. Rare Desmoplakin Phenotype: Skin Fragility / Woolly Hair Syndrome

MANAV KABAYEĞİT Z., ALİYEVA L., ÖZEMRİ SAĞ Ş., TEMEL Ş. G.

1st Bursa International Genetics Days: Dermatogenetics Symposium, Türkiye, 9 - 11 Ocak 2020, (Özet Bildiri)

40. Comprehensive Bioinformatic Analyses Of BRCA1/2 Variants Identified in Individuals With Personal and/or Family Hıstory of BRCA-Related Cancers

PİRİM D., kaya n., UZ YILDIRIM E., ÖZEMRİ SAĞ Ş., TEMEL Ş. G.

1st Bursa International Genetics Days: Dermatogenetics Symposium, Bursa, Türkiye, 9 - 11 Ocak 2020, (Özet Bildiri) Sürdürülebilir Kalkınma

41. TACI Mutasyonu Olan Hastaların Değerlendirilmesi

ÇEKİÇ Ş., ÇİÇEK F., KARALI Y., ELMAS E., görükmez o., TEMEL Ş. G., et al.

16. Uludağ Pediatri Kış Kongresi, Türkiye, 8 - 11 Mart 2020, (Özet Bildiri)

42. ROBOTIC SMALL MOLECULE INHIBITOR LIBRARY SCREENING FOR MCL-1 THROUGH BH3 PROFILING

Atay Ö., TEMEL Ş. G., BAŞAĞA S. H., KÜTÜK Ö.

BIOTÜRKIYE, 05 Mart 2020, (Özet Bildiri)

43. Developing evidence based computerized diagnostic tools for breast cancer early prediction

Şentürk N., Tuncel G., Köseoğlu S., Doğan B., Özemri Sağ Ş., Mocan G., et al.

V. Uluslararası Katılımlı Erciyes Tıp Genetik Günleri Kongresi, Türkiye, 20 - 22 Şubat 2020, (Özet Bildiri) Sürdürülebilir Kalkınma

44. Molecular Autopsy: The importance of the postmortem genetic testing

TEMEL Ş. G.

V.Erciyes Medical Genetic Days 2020, Türkiye, 20 Şubat 2020, (Özet Bildiri)

45. A balanced translocation t(27)(p21p15) in three generations: Genome sequencing offers an opportunity to understand molecular etiology of Saethre-Chotzen/Robinow-Sarouf syndromes

Turkgenc B., TEMEL Ş. G.

EUROPEAN JOURNAL OF HUMAN GENETICS, Gothenburg, İsveç, 15 - 18 Haziran 2019, cilt.27, ss.1271, (Özet Bildiri)

46. A family with X-linked recessive hypohidroticectodermal dysplasia due to EDA c.895G Amutation

TEMEL Ş. G., ÇEVİK M. Ö.

EBTNA 2019 valencia, 11 - 13 Nisan 2019, cilt.3015, ss.28-29, (Özet Bildiri)

47. Application of high-throughput DNA sequencing to score population-specific variants for rare disorders

Ergoren M. C., Manara E., Paolacci S., Temel Ş. G., Mocan G., Dundar M., et al.

European Biotechnology Congress, Valencia, İspanya, 11 - 13 Nisan 2019, cilt.305, (Özet Bildiri)

48. Mutation status and immunohistochemical correlation of EGFR mutations in gastric cancer patients

Ozkayalar H., Kurt S., Cevik E., Ergoren M. C., Mocan G., Temel Ş. G.

European Biotechnology Congress, Valencia, İspanya, 11 - 13 Nisan 2019, cilt.305, (Özet Bildiri) Sürdürülebilir Kalkınma

49. Application of next generation sequencing in rare disorders

Temel Ş. G.

European Biotechnology Congress, Valencia, İspanya, 11 - 13 Nisan 2019, cilt.305, (Özet Bildiri)

50. Next generation sequencing-based gene panel tests for the diagnosis of hereditary cancers

ZEYBEK S., ALEMDAR A., kaya n., Aliyeva L., KABLAN A., PİRİM D., et al.

American Society of Human Genetics 69th Annual Meeting, Houston, Amerika Birleşik Devletleri, 15 - 19 Ekim 2019, (Özet Bildiri) Sürdürülebilir Kalkınma

51. SOCS Gene Polymorphism In Vitiligo Patients.

IRMAK YAZİCİ E., SARICAOĞLU H., TEMEL Ş. G., BÜLBÜL BAŞKAN E., AYDOĞAN K., YAZİCİ S., et al.

28th EADV Congress. Madrit, 9 - 13 Ekim 2019, (Özet Bildiri)

52. Identification of a Novel Genetic Cause of Familial Nonobstructive Azospermia

Temel Ş. G., Turkgenc B., Terali K., Ergoren M., Cetinkaya M., Basar M., et al.

52nd Conference of the European-Society-of-Human-Genetics (ESHG), Gothenburg, İsveç, 15 - 18 Haziran 2019, cilt.27, ss.1190-1191, (Özet Bildiri)

53. A balanced translocation t(2;7)(p21;p15) in three generations: Genome sequencing offers an opportunity to understand molecular etiology of Saethre-Chotzen/Robinow-Sarouf syndromes

Turkgenc B., Aguilar R. P., Curral B., Lowther C., Wilch E. S., Talkowski M., et al.

52nd Conference of the European-Society-of-Human-Genetics (ESHG), Gothenburg, İsveç, 15 - 18 Haziran 2019, cilt.27, ss.1271, (Özet Bildiri)

54. WAC geninde tanımlanan yeni bir varyant ve DeSanto-Shinawi Sendromu

Tunç E., TEMEL Ş. G., ALANAY Y.

4.Çocuk Genetik Kongresi, Türkiye, 25 - 27 Eylül 2019, (Özet Bildiri)

55. Meester-Loeys sendromu: Marfan benzeri sendromlara yeni bir üye

ZEYBEK S., TEMEL Ş. G., NUR B., ÖZEMRİ SAĞ Ş., ALANAY Y., MIHÇI E.

4. Ulusal Çocuk Genetik Kongresi, Türkiye, 25 - 27 Eylül 2019, (Özet Bildiri)

56. yPsychomotor delay in a child with Achondroplasia

Ergoren M. C., Aliyeva L., EREN E., Manara E., Paolacci S., Mocan G., et al.

51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG), Milan, İtalya, 16 - 19 Haziran 2018, cilt.27, ss.916, (Özet Bildiri)

57. Ischiospinal Dysostosis in a boy with a novel homozygous missense mutation in the BMPER gene

Kablan A., Mat B., Temel Ş. G., ALANAY Y.

58. Next Generation Sequencing (NGS) panel revealed new candidate genes and variants in 25 Hypertrophic Cardiomyopathy patients

Turkgenc B., Temel Ş. G., Uysal F., Atik S. U., Oztunc F., Sulu A., et al.

59. Targeted gene panel sequencing for hereditary kidney diseases: efficiently detects candidate pathogenic variants related with these disorders

kaya n., ALKAYA A., Aliyeva L., KABLAN A., PİRİM D., UZ YILDIRIM E., et al.

Uluslararası Katılımlı Erciyes Tıp Genetik Günleri 2019, Kayseri, Türkiye, 21 - 23 Şubat 2019, (Özet Bildiri)

60. Vitiligo tanılı olgularda SOCS gen polimorfizmi

IRMAK YAZİCİ E., SARICAOĞLU H., TEMEL Ş. G., BÜLBÜL BAŞKAN E., AYDOĞAN K., YAZİCİ S., et al.

14. Ege Dermatoloji Kongresi, Türkiye, 1 - 05 Mayıs 2019, (Özet Bildiri)

61. Identification of BRCA1/2 Variants via Next Generation Sequencing for Therapeutic Approach

Özemri Sağ Ş., Kaya N., Alıyeva L., Kablan A., Örnek C., Doğan B., et al.

13th Balkan Congress of Human Genetics, Edirne, Türkiye, 17 - 20 Nisan 2019, (Özet Bildiri)

62. Genetic evaluation of the CFTR gene and comprehensive analysis of the sequence

Yılmaz E. B., kaya n., Aliyeva L., KABLAN A., PİRİM D., UZ YILDIRIM E., et al.

13th Balkan Congress of Human Genetics, Edirne, Türkiye, 17 - 20 Nisan 2019, (Özet Bildiri)

63. Molecular diagnosis of connective tissue disorders using targeted gene panel screening

KABLAN A., kaya n., Aliyeva L., PİRİM D., UZ YILDIRIM E., ÖZEMRİ SAĞ Ş., et al.

13th Balkan Congress of Human Genetics, Edirne, Edirne, Türkiye, 17 - 20 Nisan 2019, (Özet Bildiri)

64. Diagnostic efficiency of multiple gene panel in cardiomyopathy and hereditary arrhythmias

ALEMDAR A., kaya n., Aliyeva L., KABLAN A., PİRİM D., UZ YILDIRIM E., et al.

13th Balkan Congress of Human Genetics, Edirne, Türkiye, 17 - 20 Nisan 2019, (Özet Bildiri)

65. Targeted gene panel sequencing for hereditary Cancers: Diagnostic Efficiency

Temel Ş. G., Alemdar A., Kaya N., Aliyeva L., Kablan A., Pirim D., et al.

13th Balkan Congress of Human Genetics, Edirne, Türkiye, 17 - 20 Nisan 2019, (Özet Bildiri) Sürdürülebilir Kalkınma

66. High-throughput DNA sequencing-based genomic profiling analysis reveals novelhomozygote mutations-phenotype association for severe dilated cardiomyopathy in a Turkishheritage patient.

ERGÖREN M. Ç., AKCAN N., YÜKSEL Ü., ÖZEMRİ SAĞ Ş., TEMEL Ş. G.

13.Balkan Congress Of Human Genetics, 17 - 20 Nisan 2019, (Özet Bildiri)

67. A rare case report of SMARD1 (SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1 syndrome.

ALİYEVA L., KABLAN A., TÜTÜNCÜ TOKER R., OKAN M. S., ÖZEMRİ SAĞ Ş., TEMEL Ş. G.

13th Balkan Congress of Human Genetics, Edirne, Türkiye, 17 - 20 Nisan 2019, cilt.22, (Tam Metin Bildiri)

68. Osteogenezis imperfekta ön tanılı hastaların hedefe yönelik gen paneli kullanilarak yeni nesil tekniği ile dizilenmesi

Aliyeva L., kaya n., KABLAN A., PİRİM D., UZ YILDIRIM E., ÖZEMRİ SAĞ Ş., et al.

3. Ege Endokrin Hastalıklar ve Genetik Sempozyumu, İzmir, Türkiye, 7 - 09 Mart 2019, (Özet Bildiri)

69. A population based study: genetics of smoking

KANDEMİŞ E., TEMEL Ş. G., ERGÖREN M. Ç.

Erciyes Tıp Genetik Günleri, Türkiye, 21 - 23 Şubat 2019

70. A case with a de novoheterozygote ACTG1 variant:Genotype-phenotype correlation

KABLAN A., ALİYEVA L., ÖZEMRİ SAĞ Ş., TEMEL Ş. G.

Uluslararası KatılımlıErciyes Tıp Genetik Günleri 2019, Türkiye, 21 - 23 Şubat 2019, (Özet Bildiri)

71. Heritable connective tissuedisorders and accompanyingcardiovascular abnormalities

TEMEL Ş. G.

Erciyes Tip Genetik Günleri 2019, Türkiye, 21 Şubat 2019, (Özet Bildiri)

72. Screening of common and novel variants in the MEFV Gene in patients with familial mediterranean fever (FMF) symptoms by using next generation sequencing

kaya n., kurt z., Aliyeva L., KABLAN A., ÖZEMRİ SAĞ Ş., UZ YILDIRIM E., et al.

13. Ulusal Tıbbi Genetik Kongresi, Antalya, 2018, Antalya, Türkiye, 7 - 11 Kasım 2018, (Özet Bildiri)

73. Identification and analysis of novel variants associated with breast and ovarian cancer in BRCA1 and BRCA2 Genes

Aliyeva L., kaya n., kurt z., KABLAN A., ÖZEMRİ SAĞ Ş., PİRİM D., et al.

13. Ulusal Tıbbi Genetik Kongresi Antalya, Antalya, Türkiye, 7 - 11 Kasım 2018, (Özet Bildiri) Sürdürülebilir Kalkınma

74. On the Contribution of Computational Biology to the Functional Exploration of Missense Mutants: A Case-Based Overview

TERALI K., TEMEL Ş. G.

XIII.Uluslararası Katılımlı Tibbi Genetik Kongresi, 7 - 11 Kasım 2018, (Özet Bildiri)

75. Identification of the FGFR3 G380R Mutant As a Likely Cause of Psychomotor Delay in an Achondroplastic Child: A Combined Clinical Exome Sequencing and Biomolecular Modeling Approach

TEMEL Ş. G., TERALI K.

2nd International Cell Death Research Congress, 01 Kasım 2018, (Tam Metin Bildiri)

76. Baraitser-Winter Syndrome in a boy with heterozygous missense mutation in the ACTB gene

Temel Ş. G., Ekmekci G., Yenmis G., Kiper P. O. S., ALANAY Y.

50th European-Society-of-Human-Genetics (ESHG) Conference, Copenhagen, Danimarka, 27 - 30 Mayıs 2017, cilt.26, ss.956, (Özet Bildiri)

77. Psoriasis ve 5HT2CR gen polimorfizmi: klinik, demografik ve tedavi ilişkisi

YAZİCİ S., YILMAZ İ., BÜLBÜL BAŞKAN E., ORAL H. B., TEMEL Ş. G., AYDOĞAN K.

7. Dermatoimmünoloji ve Alerji Güz Okulu, Muğla, Türkiye, 26 - 29 Eylül 2018, cilt.2018, (Özet Bildiri)

78. Lysinuric protein intolerance and HOIP deficiency in a boy: SLCA7A and RNF31 gene disruptions

Aliyeva L., ERDÖL Ş., Gorukmez O., Turkgenc B., GÜRKAN H., Yarali Y., et al.

European Biotechnology Congress, Athens, Yunanistan, 26 - 28 Nisan 2018, cilt.280, (Özet Bildiri)

79. Postmortem genetic testing in sudden cardiac death: To be or not to be?

TEMEL Ş. G., Turkgenc B., Akcay A., KÖSELER A., Yakicier C.

European Biotechnology Congress, Athens, Yunanistan, 26 - 28 Nisan 2018, cilt.280, (Özet Bildiri)

80. The Use of High-throughput DNA Sequencing to Identify Genes for Rare Diseases. Second International Biomedical Engineering Congress (IBMEC 2018) 24th-27th May 2018 Nicosia, Cyprus, Oral presentation.2018

ERGÖREN M. Ç., MOCAN G., TEMEL Ş. G., TERALI K., Şanlidağ B., FAHRİOĞLU U., et al.

IBMEC, 24 - 27 Mayıs 2018, (Özet Bildiri)

81. Lysinuric protein intolerance and HOIP deficiency in a boy with homozygous missense mutation in the RNF31 gene and homozygous deletion of SLC7A7 gene

ALİYEVA L., ERDÖL Ş., GÖRÜKMEZ O., GÜRKAN H., KARALI Y., BAYTAN B., et al.

Erciyes Tıp Genetik Günleri, Kayseri, Türkiye, 7 - 10 Mart 2018, (Özet Bildiri)

82. GENETICS OF HEREDITARY ARRHYTMIAS

TEMEL Ş. G.

Erciyest Tıp Genetik Günleri 2018, Türkiye, 07 Mart 2018, (Özet Bildiri)

83. Trombozda moleküler genetik mekanızmalar ve genetik danışma

TEMEL Ş. G.

3.Ege Hematolojik Genetik Sempozyumu, Türkiye, 14 Şubat 2018, (Özet Bildiri)

84. Robinow, Ter-Haar, Teebi or a new syndrome: Complex genotype with distinctive craniofacial features

UYSAL F., TEMEL Ş. G., Turkgenc B.

American Society of Human Genetics 2108, 17 - 21 Ekim 2017, (Özet Bildiri)

85. Understanding the impact of a novel homozygous nonsense CAST gene mutation in a PLACK family.

TEMEL Ş. G., Bahriye K., Turkgenc B., Zorlu O., UMIT K., YAKICIER M. C., et al.

ASHG Conference 2017, 17 - 21 Ekim 2017, (Özet Bildiri)

86. The association of TMPO and RYR1 genes with cardiovascular diseases in a Turkish Cypriot Family.

ERGÖREN M. Ç., KALKAN R., Turkgenc B., TEMEL Ş. G.

ASHG Conference 2017, 17 - 21 Ekim 2017, (Özet Bildiri) Sürdürülebilir Kalkınma

87. In silico analysis and identification of TYR mutations in a Cypriot family.

KALKAN R., Tülay P., ERGÖREN M. Ç., Turkgenc B., Ogur C., TEMEL Ş. G.

American Society of Human Genetics 2017, 17 - 21 Ekim 2017, (Özet Bildiri)

88. Targeted custom gene panel sequencing for cardiac ion channelopathies: Efficiently detects candidate pathogenic mutations in Long QT syndrome

Temel Ş. G., Turkgenc B., Karadag O., Aykan H. H., Uysal F., Bastuhan I. Y., et al.

European Biotechnology Congress, Dubrovnik, Hırvatistan, 25 - 27 Mayıs 2017, cilt.256, (Özet Bildiri)

89. E11.2 - Recommendations for the management of sudden cardiac deathsudden cardiac death forensic autopsy genetic testing

Felman F., Basso C., Charron P., Wilde A., Mary S., Tasse A. M., et al.

ESHG2017 Congress, 27 - 30 Mayıs 2017, (Özet Bildiri)

90. Arterial tortuosity syndrome: 37 new families and literature review

Aude B., BOSTAN Ö. M., Salih M., Gezdirici A., Van LAER l., Taylor A., et al.

ESHG Conference 2017, 27 - 30 Mayıs 2016, (Özet Bildiri)

91. Baraitser-Winter Syndromein a boy with heterozygote missense mutation in the ACTB gene.

TEMEL Ş. G., ALANAY Y., Cumhur E., Pelin Özlem K. Ş.

ESHG Conference 2017, 27 - 30 Mayıs 2017, (Özet Bildiri)

92. EXPLORING/DEFINING THE ROLE OF A NOVEL HOMOZYGOUS NONSENSE CAST MUTATION IN A PLACK FAMILY

TEMEL Ş. G., Karakas B., SARICAOĞLU H., Turkgenc B., Zorlu O., KÜTÜK Ö., et al.

Erciyes Tıp Genetik Günleri, Türkiye, 11 - 13 Mayıs 2017, (Özet Bildiri)

93. Molecular aproach of targeted next generation sequencing of 68 genes involved in cardiac arrhythmias of 148 unrelated patients.

Turkgenc B., TEMEL Ş. G., Karadag O., AYKAN H. H., UYSAL F., Bastuhan I. Y., et al.

ASHG Conference 2017, 17 Ekim - 21 Ocak 2017, (Özet Bildiri)

94. PREDICTION OF ENDOCRINE THERAPY RESPONSE AND RESISTANCE IN BREAST CANCER CELLS BY EXPLOITING THE MITOCHONDRIA AND ESTROGEN RECEPTOR STATUS

Karakas B., GİRAY A., GÜL Ö., TEMEL Ş. G., BAŞAĞA S. H., KÜTÜK Ö.

6.Multidisipliner Kanser Araştırma Kongresi, 27 - 30 Ekim 2016, (Özet Bildiri) Sürdürülebilir Kalkınma

95. Mitochondrial estrogen receptors and endocrine therapy response

GİRAY A., Karakas B., TEMEL Ş. G., KÜTÜK Ö., BAŞAĞA S. H.

3rd World Congress on Women’s Health and Breast Cancer, 03 Ekim 2016, (Özet Bildiri)

96. Homozygous and compund heterozygote mutation in 3 Turkish family with Jervell Lange Nielsen syndrom

TEMEL Ş. G., UYSAL F., Güven T., BOSTAN Ö. M., Elif E., UYGUNER Z. O., et al.

European society of Human genetics congress, 6 - 09 Haziran 2015

97. Herediter aritmi sendromu mu? Epılepsı mı? Yoksa herıkısı de mı?

TEMEL Ş. G., UYSAL F., BOSTAN Ö. M., Turkgenc B., YAKICIER M. C., Çil E.

3.Nörometabolik Dismorfoloji Günleri, Türkiye, 10 - 12 Mart 2016, (Özet Bildiri)

98. Arterial tourtosity in two Turkish pediatric patients with novel homozygous missense mutations in the SLC2A10 gene

UYSAL F., TEMEL Ş. G., BOSTAN Ö. M., Proost D., LAER L. V., LOEYS B., et al.

American Society of Human Genetics 2015, Baltimore, 6 - 10 Ekim 2015

99. Arterial tourtosity in twu Turkish pediatric patient with novel homozygous mutaion in SLC2A10 gene

UYSAL F., TEMEL Ş. G., BOSTAN Ö. M., Lut V. L., Ergun Ç., Loeys B.

American Society of Human Gnetics Congress, 6 - 10 Ekim 2015, (Özet Bildiri)

100. From death to life Back to the future Detailed premorbid clinical and family history can save the lifes and adress the final diagnosis in sudden unexplained deaths with negative otopsy

TEMEL Ş. G., BAYDAR Ç. L., Burcu T., Sıla U., Minel Ö., Cenk C., et al.

American Society uf Human Genetics congress, 6 - 10 Ekim 2015

101. A custom Amplisec arrhytmia panel comprimising 68 cardiac chanelopathy genes is a gold standard for the rapid and sensitive detection of genetic variation in long Qt syndrome

Burcu T., TEMEL Ş. G., AYKAN H. H., SÜLÜ A., UYSAL F., BAŞPINAR O., et al.

American Society of Human Genetics Congress, 6 - 10 Ekim 2015

102. POSSIBLE ASSOCIATION BETWEEN CNVs IN Xp IN VCX3A GENE AND OVARIAN DYSFUNCTION.

Temel Ş. G., Aybar F., Onal M., Gumuslu E., Ekmekci C. G., Kahraman S.

International-Federation-of-Fertility-Societies 21st World Congress on Fertility and Sterility / 69th Annual Meeting of the American-Society-for-Reproductive-Medicine, Massachusetts, Amerika Birleşik Devletleri, 12 - 17 Ekim 2013, cilt.100, (Özet Bildiri)

103. DOES OVARIAN STIMULATION DURATION MAKE ANY DIFFERENCE ON PREGNANCY OUTCOMES IN POOR RESPONDER PATIENTS UNDERGOING IVF-ICSI CYCLES WITH GnRH ANTAGONIST PROTOCOL?

Aybar F., Cil A. P., Batmaz G., Temel Ş. G., Kahraman S.

104. EVALUATION OF THE OOCYTE MORPHOLOGY IN THE PATIENTS UNDERGOING IVF-ICSI CYCLES RECEIVING GnRH AGONISTS AND ANTAGONISTS PROTOCOLS: A RETROSPECTIVE STUDY.

Tufekci M. A., Temel Ş. G., Aybar F., Yelke H. K., Kahraman S.

105. Preimplantation genetic diagnosis (PGD) for inversion carriers

Temel Ş. G., Beyazyurek C., Ekmekci G. C., Aybar F., Cinar C., Kahraman S.

29th Annual Meeting of the European-Society-of-Human-Reproduction-and-Embryology (ESHRE), London, Kanada, 7 - 10 Temmuz 2013, cilt.28, ss.304-305, (Özet Bildiri)

106. Microwave-assisted antigen retrieval and primary antibody incubation of COX-2 in archival paraffin embedded human oligodendrogliomas

TEMEL Ş. G., ERSOY S., KAHVECİ Z., JENNES L.

Society for Neuroscience 32nd Annual Meeting, Amerika Birleşik Devletleri, 2 - 07 Kasım 2002, (Özet Bildiri)

107. Next Generation Solutions in Diagnosis of Ciliopathy: From Functional Genomics to AI Based Approaches

TEMEL Ş. G.

ERCIYES TIP TIBBI GENETIK KONGRESI, 26 Mayıs 2022, (Özet Bildiri)

Kitaplar 8

1. Performance measurements of 12 different machine learning algorithms that make personalized psoriasis treatment recommendations with a database of psoriasis patients responding to treatment

Altıparmak H., Yazici S., Yılmaz İ., Bülbül Başkan E., Oral H. B., Aydoğan K., et al.

Computational Intelligence and Blockchain in Complex Systems System Security and Interdisciplinary Applications A volume in Advanced Studies in Complex Systems, Fadi Al-Turjman, Editör, Morgan Kaufmann Publishers , Massachusetts, ss.85-95, 2024

2. Performance measurements of 12 different machine learning algorithms that make personalized psoriasis treatment recommendations with a database of psoriasis patients responding to treatment

ALTIPARMAK H., YAZİCİ S., YILMAZ İ., BÜLBÜL BAŞKAN E., ORAL H. B., AYDOĞAN K., et al.

Computational Intelligence and Blockchain in Complex Systems System Security and Interdisciplinary Applications A volume in Advanced Studies in Complex Systems, Al-Turjman Fadi, Editör, Elsevier, ss.85-95, 2024

Metrikler

Yayın

237

Yayın (WoS)

130

Yayın (Scopus)

108

Atıf (WoS)

830

H-İndeks (WoS)

Atıf (Scopus)

884

H-İndeks (Scopus)

Atıf (TrDizin)

H-İndeks (TrDizin)

Atıf (Sobiad)

H-İndeks (Sobiad)

Proje

Fikri Mülkiyet

Tez Danışmanlığı

Açık Erişim

BM Sürdürülebilir Kalkınma Amaçları

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