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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.American Journal of Medical Genetics. Part A|February 24, 2026
ATP6V0A2-Related Cutis Laxa: Identification of a Recurrent Exon 16 Deletion With Founder Effect in Southeastern Türkiye and a Novel Frameshift VariantZeynep Esener, Murat Öztürk, Esra Habiloğlu, et al.Metabolic Brain Disease|April 28, 2025
Genotypic and phenotypic characteristics of Turkish patients with phenylalanine metabolism disordersFatma-Nur Kuzucu, Mustafa Kilic, Abdullah Sezer, et al.American Journal of Medical Genetics. Part A|July 18, 2025
Two New Families With TAF13 Variant Presenting With Syndromic 46,XY Disorder of Sex Development: Expanding the Clinical PhenotypeHasan Arı, Ayberk Türkyılmaz, Ayşe Burcu Doğan Arı, 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.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.Journal of Pediatric Endocrinology & Metabolism : JPEM|February 15, 2025
DNA ligase IV deficiency identified in a patient with hypergonadotropic hypogonadism: a case reportDeniz Yasar, Abdullah Sezer, Caner Aytekin, et al.Journal of Pediatric Endocrinology & Metabolism : JPEM|July 22, 2025
Surgical treatment and somatostatin experience in growth hormone-secreting pituitary macroadenoma due to novel <i>AIP</i> mutationKıymet Karagöz, Emine Şeyma Eken, Gülin Karacan Küçükali, et al.American Journal of Medical Genetics. Part A|July 6, 2026
Biallelic Variants in MIMS1 Produce a Form of Spondyloepimetaphyseal Dysplasia With Tracheal Stenosis and Ectodermal Dysplasia (SEMDTSED)Abdullah Sezer, Mathieu Quinodoz, Bing Li, 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.Pageof 5