Showing results (1-10 of 24) with videos related to
Sort By:
Pageof 3
Molecular Syndromology|August 9, 2024
A Cockayne-Syndrome-Like Phenotype with a Homozygous Truncating UVSSA Variant: Might This Be a New Cause?Yusuf Bahap, Gulsum KayhanEuropean Journal of Medical Genetics|July 20, 2023
Long-term follow-up and novel variant in Suleiman-El-Hattab syndrome: Expanding the genotypic and clinical spectrum of a rare neurodevelopmental disorderAbdullah Sezer, Gulsum Kayhan, Ferda E PercinAmerican Journal of Medical Genetics. Part A|April 29, 2025
Dual Diagnosis of Sifrim-Hitz-Weiss Syndrome and Neurofibromatosis Type 1: Expanding the Phenotype of Cardiac Features in Sifrim-Hitz-Weiss Syndrome and Quick Literature ReviewAli Babazade, Tarik Duzenli, Serdar Mermer, et al.Retinal Cases & Brief Reports|April 18, 2025
Pars Plana Vitrectomy with Foveal Cyst Aspiration as a Treatment Option for Macular Retinoschisis in a Coat-Like Retinitis Pigmentosa CaseSengul Ozdek, Emrah Ozturk, Tugce Kucukbalcı, et al.Ophthalmic Genetics|July 24, 2024
Geleophysic dysplasia and Weill-Marchesani syndrome: ADAMTSL2 a possible common geneTarik Duzenli, Betul Seher Uysal, Berkay Ulas, et al.Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society|January 30, 2026
A Rare Cause of Genetic Liver Disease in Children: Transaldolase Deficiency with a Novel Pathogenic Variant in Two SiblingsOzlem Sumer Cosar, Gulsum Kayhan, Gulen Akyol, et al.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.Genetic Testing and Molecular Biomarkers|August 15, 2017
Birt-Hogg-Dube Syndrome with a Novel Mutation in the FLCN GeneGulsum Kayhan, Nilgun Yılmaz Demirci, Haluk Turktas, et al.Ophthalmic Genetics|June 18, 2026
Expanding the phenotypic and genotypic spectrum of TENM3-related syndromic microphthalmiaOzan Vural, Tarik Duzenli, Sengul Özdek, et al.Journal of Clinical Lipidology|May 13, 2025
Is Tangier disease a rare cause of premature ovarian insufficiency?: A case reportAfruz Babayeva, Ethem Turgay Cerit, Gulsum Kayhan, et al.Pageof 3