A New Nonsense Mutation in CDKL5 Gene in a Male Patient with Early Onset Refractory Epilepsy: a Case Report

by Soudeh Ghafouri-Fard, Shadab Salehpour, Vahidreza Yassaee, Mohammad Miryounesi
Published 2016-02-01

Whole-Exome Sequencing Uncovers Novel Causative Variants and Additional Findings in Three Patients Affected by Glycogen Storage Disease Type VI and Fanconi−Bickel Syndrome

by Maryam Eghbali, Kiyana Sadat Fatemi, Shadab Salehpour, Shadab Salehpour, Maryam Abiri, Maryam Abiri, Hassan Saei, Saeed Talebi, Nasrin Alipour Olyaei, Vahid Reza Yassaee, Mohammad Hossein Modarressi
Published 2021-01-01