Reporting one very rare pathogenic variation c.1106G>A in POMT2 gene

por Mahjoub, Ghazale, Faghihi, Mohammad Ali, Taghdiri, Maryam
Publicado en Intractable Rare Dis Res (2020)

Identification of a novel deletion within ALDH3A2 gene in an Iranian Family with Sjögren–Larsson Syndrome

por Taghdiri, Maryam, Kashef, Atie, Fardaei, Majid, Miryounesi, Mohammad
Publicado en Clin Case Rep (2017)

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 en Front Pediatr (2017)

Advanced molecular approaches pave the road to a clear-cut diagnosis of hereditary retinal dystrophies

por Ravesh, Zeinab, Dianatpour, Mahdi, Fardaei, Majid, Taghdiri, Maryam, Hashemi-Gorji, Feyzollah, Yassaee, Vahid Reza, Miryounesi, Mohammad
Publicado en Mol Vis (2018)

Further delineation of the phenotype caused by a novel large homozygous deletion of GRID2 gene in an adult patient

por Taghdiri, Maryam, Kashef, Atie, Abbassi, Golemaryam, Moshtagh, Azadeh, Sadatian, Neda, Fardaei, Majid, Najafi, Kimia, Kariminejad, Roxana
Publicado en Clin Case Rep (2019)

Identification of SLC26A4 gene mutations in Iranian families with hereditary hearing impairment

por Kahrizi, Kimia, Mohseni, Marzieh, Nishimura, Carla, Bazazzadegan, Niloofar, Fischer, Stephanie M., Dehghani, Atefeh, Sayfati, Morteza, Taghdiri, Maryam, Jamali, Payman, Smith, Richard J. H., Azizi, Fereydoun, Najmabadi, Hossein
Publicado en Eur J Pediatr (2008)

CHARACTERIZING THE SPECTRUM OF AUTOSOMAL RECESSIVE HEREDITARY HEARING LOSS IN IRAN

por Sloan-Heggen, Christina M, Babanejad, Mojgan, Beheshtian, Maryam, Simpson, Allen C, Booth, Kevin T, Ardalani, Fariba, Frees, Kathy L, Mohseni, Marzieh, Mozafari, Reza, Mehrjoo, Zohreh, Jamali, Leila, Vaziri, Saeideh, Akhtarkhavari, Tara, Bazazzadegan, Niloofar, Nikzat, Nooshin, Arzhangi, Sanaz, Sabbagh, Farahnaz, Otukesh, Hasan, Seifati, Seyed Morteza, Khodaei, Hossein, Taghdiri, Maryam, Meyer, Nicole C, Daneshi, Ahmad, Farhadi, Mohammad, Kahrizi, Kimia, Smith, Richard JH, Azaiez, Hela, Najmabadi, Hossein
Publicado en J Med Genet (2015)