Showing results (1-10 of 8) with videos related to
Sort By:
Pageof 1
Journal of Pediatric Endocrinology & Metabolism : JPEM|January 30, 2026
Meier-Gorlin syndrome due to a recurrent <i>DONSON</i> variant in a Turkish family: first report of thumb aplasia and long-term growth dataAbdullah Sezer, Fatma Zehra Yalçın, Abdulkerim Kolkıran, 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.European Journal of Pediatrics|October 8, 2025
Ectodermal dysplasias and isolated ectodermal anomalies: expanding the clinical and molecular spectrum in a cohort of 36 patientsAyşe Burcu Doğan Arı, Ayberk Türkyılmaz, Abdulkerim Kolkıran, 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.Journal of Pediatric Endocrinology & Metabolism : JPEM|October 13, 2025
A 2-year-old girl with merged phenotypes: galactosemia and Coffin-Lowry syndromeEsra Sayar, Gizem Gökçe Altaş, Abdullah Sezer, et al.The Turkish Journal of Pediatrics|January 13, 2022
The rare reason of pain in hip girdle: Mucolipidosis type 3 gammaAbdulkerim Kolkıran, Beren Karaosmanoğlu, Zihni Ekim Taşkıran, et al.Pediatric Allergy, Immunology, and Pulmonology|July 10, 2026
Homozygous <i>DIAPH1</i> Deficiency Without Cortical Blindness Presenting with EBV-Associated Hodgkin LymphomaAli Özlem, Seda Şirin, Kezban İpek Demir, 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.Pageof 1