Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Neda Sadatian"'
Autor:
Maryam Taghdiri, Atie Kashef, Golemaryam Abbassi, Azadeh Moshtagh, Neda Sadatian, Majid Fardaei, Kimia Najafi, Roxana Kariminejad
Publikováno v:
Clinical Case Reports, Vol 7, Iss 6, Pp 1149-1153 (2019)
Key Clinical Message Different mutations in glutamate receptor ionotropic delta 2 (GRID2) gene cause cerebellar ataxia in human. We report the largest homozygous deletion of the GRID2 gene reported to date, most probably causing complete loss of the
Externí odkaz:
https://doaj.org/article/43618e758e3d42cb93b887e02caf4695
Autor:
Kimia Najafi, Soheila Gholami, Azadeh Moshtagh, Masood Bazrgar, Neda Sadatian, Golemaryam Abbasi, Parvin Rostami, Soheila Khalili, Mojgan Babanejad, Bahareh Nourmohammadi, Negin Faramarzi Garous, Hossein Najmabadi, Roxana Kariminejad
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 7, Iss 8, Pp n/a-n/a (2019)
Abstract Background Pregnancy loss affects 10%–15% of pregnancies and is caused by several factors, maternal and fetal. Most common cause is chromosomal aneuploidy and has traditionally been detected by karyotyping product of conception and/or feta
Externí odkaz:
https://doaj.org/article/ab057e8a446d4424b39cf48405a5896b
Autor:
Kimia Najafi, Roxana Kariminejad, Kaveh Hosseini, Azadeh Moshtagh, Gole Maryam Abbassi, Neda Sadatian, Masood Bazrgar, Ariana Kariminejad, Mohamad Hassan Kariminejad
Publikováno v:
Case Reports in Genetics, Vol 2017 (2017)
Introduction. Pelizaeus-Merzbacher disease (PMD) is an X-linked recessive hypomyelinating leukodystrophy characterized by nystagmus, spastic quadriplegia, ataxia, and developmental delay. It is caused by mutation in the PLP1 gene. Case Description. W
Externí odkaz:
https://doaj.org/article/2754fb432cfb4b61bc9d493154964087
Autor:
Atie Kashef, Azadeh Moshtagh, Majid Fardaei, Roxana Kariminejad, Neda Sadatian, Kimia Najafi, Golemaryam Abbassi, Maryam Taghdiri
Publikováno v:
Clinical Case Reports, Vol 7, Iss 6, Pp 1149-1153 (2019)
Clinical Case Reports
Clinical Case Reports
Key Clinical Message Different mutations in glutamate receptor ionotropic delta 2 (GRID2) gene cause cerebellar ataxia in human. We report the largest homozygous deletion of the GRID2 gene reported to date, most probably causing complete loss of the