A Heterozygous STXBP1 Gene de novo Mutation in an Iranian Child With Epileptic Encephalopathy: Case Report

by Masoud Heidari, Morteza Soleyman-Nejad, Mohammad Hossein Taskhiri, Alireza Isazadeh, Manzar Bolhassan, Javad Shahpouri, Mansour Heidari, Nahid Sadighi
Published 2020-02-01

Identification of a novel homozygous mutation in the DDR2 gene from a patient with spondylo-meta-epiphyseal dysplasia by whole exome sequencing

by Masoud Heidari, Morteza Soleyman-Nejad, Alireza Isazadeh, Mohammad Hossein Taskiri, Manzar Bolhassani, Nahid Sadighi, Zahra Shiri, Zahra Karimi, Mansour Heidari
Published 2021-02-01

Association of a novel homozygous mutation in the HMGCS2 gene with an HMGCSD in an Iranian patient

by Masoud Heidari, Morteza Soleyman‐Nejad, Alireza Isazadeh, Javad Shapouri, Mohammad Hossein Taskhiri, Roghayyeh Ahangari, Ali Reza Mohamadi, Masoumeh Ebrahimi, Hadi Karimi, Manzar Bolhassani, Zahra Karimi, Mansour Heidari
Published 2020-11-01