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

por Razmara, Ehsan, Bitarafan, Fatemeh, Esmaeilzadeh-Gharehdaghi, Elika, Almadani, Navid, Garshasbi, Masoud
Publicado 2018

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

por Razmara, Ehsan, Azimi, Homeyra, Bitaraf, Amirreza, Daneshmand, Mohammad Ali, Galehdari, Mohammad, Dokhanchi, Maryam, Esmaeilzadeh‐Gharehdaghi, Elika, Garshasbi, Masoud
Publicado 2020