Keywords = Whole exome sequencing
Number of Articles: 2
1. PLA2G6 gene mutation and infantile neuroaxonal degeneration; report of three cases from Iran

Volume 24, Issue 9, September 2021, Pages 1190-1195

Reza Jafarzadeh Esfehani; Atieh Eslahi; Mehran Beiraghi Toosi; Ariane Sadrnabavi; Mohammad Amin Kerachian; Mahsa Sadat Mohajeri Asl; Mahsa Farjami; Farzaneh Alizadeh; Majid Mojarad


2. Whole exome sequencing revealed a novel dystrophin-related protein-2 (DRP2) deletion in an Iranian family with symptoms of polyneuropathy

Volume 22, Issue 5, May 2019, Pages 576-580

Maryam Tahmasebi Birgani; Mohammadreza Hajjari; Neda Golchin; Bita Shalbafan; Javad Mohammadi-Asl; Forouzan Sadeghian