VSX1 and SOD1 mutation screening in patients with keratoconus in the South of Iran

by Mahmood Nejabat, Payam Naghash, Hassan Dastsooz, Sanaz Mohammadi, Mohsen Alipour, Majid Fardaei
Published 2017-01-01

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by Mahmood Nejabat, Payam Naghash, Hassan Dastsooz, Sanaz Mohammadi, Mohsen Alipour, Majid Fardaei
Published 2018-01-01

A novel PTRH2 missense mutation causing IMNEPD: a case report

by Hossein Jafari Khamirani, Sina Zoghi, Mehdi Dianatpour, Aria Jankhah, Seyed Sajjad Tabei, Sanaz Mohammadi, Seyed Alireza Dastgheib
Published 2021-06-01

A Novel Mutation in ERCC8 Gene Causing Cockayne Syndrome

by Maryam Taghdiri, Maryam Taghdiri, Hassan Dastsooz, Majid Fardaei, Majid Fardaei, Majid Fardaei, Sanaz Mohammadi, Mohammad Ali Farazi Fard, Mohammad Ali Faghihi
Published 2017-08-01

A novel frameshift pathogenic variant in ST3GAL5 causing salt and pepper developmental regression syndrome (SPDRS): A case report

by Jamal Manoochehri, Seyed Alireza Dastgheib, Hossein Jafari Khamirani, Maryam Mollaie, Zahra Sharifi, Sina Zoghi, Seyed Mohammad Bagher Tabei, Sanaz Mohammadi, Fatemeh Dehghanian, Zahra Farbod, Mehdi Dianatpour
Published 2021-08-01