Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Mojdeh Roghani"'
Autor:
Mostafa Neissi, Adnan Issa Al-Badran, Misagh Mohammadi-Asl, Raed Abdulelah Al-Badran, Motahareh Sheikh-Hosseini, Mojdeh Roghani, Javad Mohammadi-Asl
Publikováno v:
Journal of Rare Diseases, Vol 3, Iss 1, Pp 1-9 (2024)
Abstract Background Niemann-Pick disease type C poses a significant challenge within the landscape of rare genetic disorders, marked by its connection to variants in the NPC1 or NPC2 genes. This autosomal recessive lipid storage disorder unfolds with
Externí odkaz:
https://doaj.org/article/6b7989370270443b8948f18fe9fb778c
Autor:
Mostafa Neissi, Motahareh Sheikh‐Hosseini, Misagh Mohammadi‐Asl, Adnan Issa Al‐Badran, Mojdeh Roghani, Javad Mohammadi‐Asl, Kamele Jorfi
Publikováno v:
Clinical Case Reports, Vol 12, Iss 10, Pp n/a-n/a (2024)
Key Clinical Message The discovery of compound heterozygous NMNAT1 mutations (c.245T>C; p.Val82Ala and c.575A>G; p.Asp192Gly) provides a genetic explanation for Leber congenital amaurosis 9 in an Iranian patient. The proband's symptoms—including se
Externí odkaz:
https://doaj.org/article/4518447d5e9049adb1c8fc4f78c59515
Autor:
Mostafa Neissi, Javad Mohammadi-Asl, Misagh Mohammadi-Asl, Mojdeh Roghani, Motahareh Sheikh-Hosseini, Adnan Issa Al-Badran
Publikováno v:
Cell Journal, Vol 26, Iss 6, Pp 392-397 (2024)
This study delves into Usher syndrome type 2 (USH2), an uncommon genetic disorder characterized by sensorineuralhearing loss (HL) and retinitis pigmentosa (RP), often associated with the USH2A gene. Focusing on an Iranian familyexhibiting USH2 sympto
Externí odkaz:
https://doaj.org/article/9660720922d54b10a7849b220925e1ec
Autor:
Mehdi Hashemipour, Ayad Neissi, Mostafa Neissi, Misagh Mohammadi-Asl, Motahareh Sheikh-Hosseini, Sasan Bavi, Mojdeh Roghani, Javad Mohammadi-Asl
Publikováno v:
International Journal of Biomedicine, Vol 14, Iss 2, Pp 352-356 (2024)
Background: Intellectual disabilities encompass a spectrum of neurodevelopmental disorders profoundly impacting an individual's cognitive abilities, adaptive behaviors, and communication skills. This article delves into the complex challenges encount
Externí odkaz:
https://doaj.org/article/b3516dca4eac4955a5646f50a8083e3c
Autor:
Mostafa Neissi, Misagh Mohammadi-Asl, Mojdeh Roghani, Adnan Issa Al-Badran, Javad Mohammadi-Asl
Publikováno v:
International Journal of Biomedicine, Vol 14, Iss 1, Pp 165-169 (2024)
Hearing loss, recognized as one of the most prevalent sensory disorders, encompasses both syndromic and non-syndromic manifestations, with the identification of 87 genes and over 100 genetic loci in autosomal recessive non-syndromic hearing loss mark
Externí odkaz:
https://doaj.org/article/e2c6e8b7605f436db0544979fb52c505