Showing results (81-90 of 94) with videos related to

Sort By:
Pageof 10
Molecular Syndromology|February 15, 2024
TPP1 Variants in Iranian patients: A Novel Pathogenic Homozygous Variant Causing Neuronal Ceroid Lipofuscinosis 2Nahid Vafaei, Ali Mohebbi, Zahra Rezaei, et al.
Orphanet Journal of Rare Diseases|December 20, 2025
Comprehensive Iranian guidelines for the diagnosis and management of mitochondrial disorders: an evidence- and consensus-based approachSetila Dalili, Noushin Rostampour, Seyedeh Tahereh Mousavi, et al.
Molecular Genetics & Genomic Medicine|February 11, 2025
Reevaluation of the Impact of the Novel Likely Pathogenic Variant c.1286_1288delAGA in the ATP8A2 Gene: A 7-Year Follow-Up With Clinical, Genetic, and ACMG Insights in an Iranian FamilySamira Kalayinia, Hamed Hesami, Reza Shervin Badv, et al.
Molecular Genetics & Genomic Medicine|March 3, 2023
Expanding the genetic spectrum of giant axonal neuropathy: Two novel variants in Iranian familiesMahmoud Reza Ashrafi, Ali Zare Dehnavi, Ali Reza Tavasoli, et al.
American Journal of Medical Genetics. Part A|January 25, 2005
GJB2 mutations: passage through IranHossein Najmabadi, Carla Nishimura, Kimia Kahrizi, et al.
Plos One|December 11, 2012
Whole-exome sequencing efficiently detects rare mutations in autosomal recessive nonsyndromic hearing lossOscar Diaz-Horta, Duygu Duman, Joseph Foster, et al.
Cell Journal|June 19, 2019
Investigation of Chromosomal Abnormalities and Microdeletion/ Microduplication(s) in Fifty Iranian Patients with Multiple Congenital AnomaliesAkbar Mohammadzadeh, Susan Akbaroghli, Ehsan Aghaei-Moghadam, et al.
Cerebellum (London, England)|June 22, 2022
Clinical and Molecular Findings of Autosomal Recessive Spastic Ataxia of Charlevoix Saguenay: an Iranian Case Series Expanding the Genetic and Neuroimaging SpectraMahmoud Reza Ashrafi, Pouria Mohammadi, Ali Reza Tavasoli, 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.
Brain & Development|December 21, 2023
A comprehensive study of mutation and phenotypic heterogeneity of childhood mitochondrial leukodystrophiesSareh Hosseinpour, Ehsan Razmara, Morteza Heidari, et al.
Pageof 10