A Novel Mutation in ERCC8 Gene Causing Cockayne Syndrome

por Taghdiri, Maryam, Dastsooz, Hassan, Fardaei, Majid, Mohammadi, Sanaz, Farazi Fard, Mohammad Ali, Faghihi, Mohammad Ali
Publicado 2017

A case report of novel mutation in PRF1 gene, which causes familial autosomal recessive hemophagocytic lymphohistiocytosis

por Bordbar, Mohammad Reza, Modarresi, Farzaneh, Farazi Fard, Mohammad Ali, Dastsooz, Hassan, Shakib Azad, Nader, Faghihi, Mohammad Ali
Publicado 2017

Pre-Implantation Genetic Testing for Monogenic Disorders (PGT-M) in A Family with A Novel Mutation in DPAGT1 Gene

por Tabatabaei, Zahra, Karbalaie, Khadijeh, Habibzadeh, Parham, Farazi Fard, Mohammad Ali, Faghihi, Mohammad Ali, Nasr Esfahani, Mohammad-Hossein
Publicado 2021

A novel mutation in SEPN1 causing rigid spine muscular dystrophy 1: a Case report

por Ziyaee, Fateme, Shorafa, Eslam, Dastsooz, Hassan, Habibzadeh, Parham, Nemati, Hamid, Saeed, Amir, Silawi, Mohammad, Farazi Fard, Mohammad Ali, Faghihi, Mohammad Ali, Dastgheib, Seyed Alireza
Publicado 2019

A Novel TTC19 Mutation in a Patient With Neurological, Psychological, and Gastrointestinal Impairment

por Habibzadeh, Parham, Inaloo, Soroor, Silawi, Mohammad, Dastsooz, Hassan, Farazi Fard, Mohammad Ali, Sadeghipour, Forough, Faghihi, Zahra, Rezaeian, Mohaddeseh, Yavarian, Majid, Böhm, Johann, Faghihi, Mohammad Ali
Publicado 2019

Pre-implantation genetic diagnosis in an Iranian family with a novel mutation in MUT gene

por Habibzadeh, Parham, Tabatabaei, Zahra, Farazi Fard, Mohammad Ali, Jamali, Laila, Hafizi, Aazam, Nikuei, Pooneh, Salarian, Leila, Nasr Esfahani, Mohammad Hossein, Anvar, Zahra, Faghihi, Mohammad Ali
Publicado 2020