Showing results (81-90 of 97) with videos related to

Sort By:
Pageof 10
Diabetes, Obesity & Metabolism|August 22, 2024
A cohort analysis of familial partial lipodystrophy from two Mediterranean countriesAntía Fernández-Pombo, Ilgin Yildirim Simsir, Sofía Sánchez-Iglesias, et al.
Molecular Genetics and Metabolism Reports|November 2, 2020
SURF1 related Leigh syndrome: Clinical and molecular findings of 16 patients from TurkeyMelis Kose, Ebru Canda, Mehtap Kagnici, et al.
Metabolism: Clinical and Experimental|June 24, 2017
Clinical presentations, metabolic abnormalities and end-organ complications in patients with familial partial lipodystrophyBaris Akinci, Huseyin Onay, Tevfik Demir, et al.
Turkish Journal of Haematology : Official Journal of Turkish Society of Haematology|February 7, 2020
Factor 8 Gene Mutation Spectrum of 270 Patients with Hemophilia A: Identification of 36 Novel MutationsTahir Atik, Esra Işık, Hüseyin Onay, et al.
Neurology|April 1, 2016
Diffuse hypomyelination is not obligate for POLR3-related disordersRoberta La Piana, Ferdy K Cayami, Luan T Tran, et al.
American Journal of Medical Genetics. Part A|June 3, 2025
Genotypic and Phenotypic Landscape of KBG Syndrome: A Study of 23 Turkish IndividualsEnise Avci Durmusalioglu, Esra Isik, Turkan Turkut Tan, et al.
Journal of Human Genetics|May 22, 2023
Genome sequencing identifies coding and non-coding variants for non-syndromic hearing lossMemoona Ramzan, Duygu Duman, LeShon Chere Peart Hendricks, et al.
The Journal of Clinical Endocrinology and Metabolism|May 5, 2016
Natural History of Congenital Generalized Lipodystrophy: A Nationwide Study From TurkeyBaris Akinci, Huseyin Onay, Tevfik Demir, et al.
International Journal of Pediatric Otorhinolaryngology|October 2, 2017
Novel pathogenic variants underlie SLC26A4-related hearing loss in a multiethnic cohortFiliz Basak Cengiz, Rasim Yilmazer, Levent Olgun, et al.
European Journal of Haematology|March 31, 2024
Identification of the molecular etiology in rare congenital hemolytic anemias using next-generation sequencing with exome-based copy number variant analysisEsra Isik, Yesim Aydinok, Canan Albayrak, et al.
Pageof 10