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Familial Cancer|June 19, 2026
Monoallelic NTHL1 p.(Gln90*) and cancer risk: evidence from a large Turkish cohortEsma Ertürkmen Aru, Afife Büke, Hanife Saat, et al.
Anatolian Journal of Cardiology|June 15, 2022
Molecular Approach of Hereditary Arrhythmias, Long QT Syndrome, and Arrhythmogenic Right Ventricular CardiomyopathyHanife Saat, İbrahim Şahin, Haktan Bağış Erdem, et al.
Diagnostics (Basel, Switzerland)|September 13, 2025
The Diagnostic Utility of Prenatal Microarray in High-Risk Pregnancies: A Single-Center Experience in Enhancing Reproductive Care and Risk StratificationAbdullatif Bakır, Mustafa Tarık Alay, Umut Can Tekbaş, et al.
Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology|February 21, 2019
Melanocortin 3 receptor gene polymorphism is associated with polycystic ovary syndrome in Turkish populationSema Hepsen, Erman Cakal, Melia Karakose, et al.
Mutation Research|June 20, 2026
Monoallelic germline RAD51C, RAD51D, and BRIP1 variants in hereditary cancer testing: Variant spectrum and clinical counselling implicationsZeynep Özdemir-Pehlivan, Afife Büke, Ezgi Çevik-Demir, et al.
Clinical Genetics|August 10, 2025
A Founder Allele in SGCG Combining Missense Variant and Multi-Exon Duplication in Turkish Patients With SarcoglycanopathyAbdullah Sezer, Afife Büke, Hasan Hüseyin Kazan, et al.
The Eurasian Journal of Medicine|June 27, 2026
Distribution of HFE Gene Variants in Patients Undergoing Genetic Testing in Türkiye: A Retrospective Analysis of 643 CasesAhmet Kablan, Abdullah Sezer, Abdüllatif Bakır, et al.
Clinical Genetics|April 7, 2025
Multilocus Disease-Causing Genomic Variations for Genetic Disorders: Single Tertiary Centre Experience From TürkiyeAhmet Kablan, Abdullah Sezer, Abdullatif Bakır, et al.
European Journal of Human Genetics : EJHG|July 4, 2025
A homozygous frameshift variant in the CILK1 gene causes cranioectodermal dysplasiaAbdullah Sezer, Sukru S Oner, Hanife Saat, et al.
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