The first case of NSHL by direct impression on EYA1 gene and identification of one novel mutation in MYO7A in the Iranian families

by Ehsan Razmara, Fatemeh Bitarafan, Elika Esmaeilzadeh-Gharehdaghi, Navid Almadani, Masoud Garshasbi
Published 2018-03-01

Whole‐exome sequencing identified a novel variant in an Iranian patient affected by pycnodysostosis

by Ehsan Razmara, Homeyra Azimi, Amirreza Bitaraf, Mohammad Ali Daneshmand, Mohammad Galehdari, Maryam Dokhanchi, Elika Esmaeilzadeh‐Gharehdaghi, Masoud Garshasbi
Published 2020-03-01