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Molecular Biology Reports|June 4, 2025
Association between OX40L rs1234314 and rs844648 polymorphisms and unexplained recurrent pregnancy lossElifcan Taşdelen, Nüket Yürür Kutlay, İbrahim Kaplan, et al.Fetal and Pediatric Pathology|January 31, 2020
Extending Phenotypic Spectrum of 17q22 Microdeletion: Growth Hormone DeficiencyCeren Damla Durmaz, Şule Altıner, Elifcan Taşdelen, et al.CEN Case Reports|January 7, 2026
Delayed diagnosis of Townes-Brocks syndrome accompanied with kidney failureMuhammed Faruk Ürkmez, Gizem Kumru, Şeyda Şahika Mutlu, et al.American Journal of Medical Genetics. Part A|March 3, 2022
Phenotypic and molecular characterization of five patients with PIK3CA-related overgrowth spectrum (PROS)Ezgi Gökpınar İli, Elifcan Taşdelen, Ceren Damla Durmaz, et al.Journal of Human Genetics|April 24, 2026
Further delineation of KIDAR syndrome: Two new cases with novel variants, functional analysis of the variants and a comprehensive reviewŞule Altıner, Ezgi Gökpınar İli, Ahmet Karer Yurtdaş, et al.Journal of Clinical Practice and Research|June 17, 2026
Diagnostic Yield and Clinical Utility of Genetic Testing in Turkish Adults with Suspected Inherited Kidney Disease: Insights from a Population with High Parental ConsanguinityGizem Kumru, Şule Altıner, Ahsen Karakaya, et al.The British Journal of Dermatology|January 3, 2026
Genotype-Phenotype Associations in a Robust Cohort of 69 Xeroderma Pigmentosum Patients across Türkiye: A Multicenter StudyDefne Baskurt, Şule Altıner, Tuğba Atcı, et al.Pageof 2