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European Journal of Medical Genetics|December 28, 2018
Hypopigmented patches in Roberts/SC phocomelia syndrome occur via aneuploidy susceptibilityAbdullah Sezer, Gulsum Kayhan, Martin Zenker, et al.American Journal of Medical Genetics. Part A|July 3, 2025
Attenuated Form of Nijmegen Breakage Syndrome: Case Report of the Oldest PatientSultan Kevser Gangal, Abdullah Sezer, Ozan Yazici, et al.Molecular Syndromology|October 3, 2024
A Recurrent c.416C>T Variant in the B3GAT3 Gene in the Turkish Population: Report of Two Siblings and Expanding the Clinical SpectrumTuğba Daşar, Abdulkerim Kolkıran, Abdullah Sezer, et al.Molecular Syndromology|December 19, 2025
Prenatally Diagnosed De Novo Interstitial Duplication in 2p21p24.3 with Unique Manifestations: Case ReportAhmet Kablan, Abdullah Sezer, Abdüllatif Bakir, et al.Molecular Genetics and Metabolism Reports|March 31, 2025
FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome: A rare cause of hyperammonemiaAyça Burcu Kahraman, Halil Çelik, Zafer Bagci, et al.American Journal of Medical Genetics. Part A|March 7, 2022
A de novo heterozygous HOXA11 variant in a patient with mesomelic dysplasia with urogenital abnormalitiesAbdullah Sezer, Ferda Emriye Perçin, Hasan Huseyin Kazan, et al.Cytogenetic and Genome Research|June 30, 2020
Warburg Micro Syndrome 1 due to Segmental Paternal Uniparental Isodisomy of Chromosome 2 Detected by Whole-Exome Sequencing and Homozygosity MappingAbdullah Sezer, Gülsüm Kayhan, Altuğ Koç, et al.Journal of Pediatric Endocrinology & Metabolism : JPEM|December 29, 2024
Sialidosis type 1 in a Turkish family: a case report and review of literaturesMustafa Kılıç, Suzan İcil, Abdullah Sezer, et al.American Journal of Medical Genetics. Part A|May 23, 2023
Expanding the phenotype and genotype in Thauvin-Robinet-Faivre syndrome: A new patient with a novel variant and additional clinical findingsTarik Duzenli, Abdullah Sezer, Gulsum Kayhan, et al.American Journal of Medical Genetics. Part A|June 19, 2026
Atypical Biallelic Inheritance in "Dominant" Genes: Evidence From a Large-Scale Consanguineus Exome CohortElifcan Taşdelen, Umut Can Tekbaş, Abdulkerim Kolkıran, et al.Pageof 5