Azam Pourahmadiyan

A pathogenic variant in SLC26A4 is associated with Pendred syndrome in a consanguineous Iranian family

M. Tabatabaiefar, J. Mohammadi-Asl, Mohammad Amin Tabatabaiefar, 2019, International journal of audiology.

A novel pathogenic variant in an Iranian Ataxia telangiectasia family revealed by next-generation sequencing followed by in silico analysis

N. Golchin, M. Tabatabaiefar, L. Shariati, 2017, Journal of the Neurological Sciences.

Next-generation sequencing reveals a novel pathogenic variant in the ATM gene

N. Golchin, M. Tabatabaiefar, Mohammad Amin Tabatabaiefar, 2020, The International journal of neuroscience.

A novel pathogenic variant of BRAT1 gene causes rigidity and multifocal seizure syndrome, lethal neonatal

S. Savad, Morteza Heidari, S. Noorian, 2020, The International journal of neuroscience.

Identification of a Novel de novo Splicing Mutation in Duchenne Muscular Dystrophy Gene in an Iranian Family

M. Noruzinia, F. Soleymani, Saeideh Kavousi, 2023, Molecular Syndromology.