Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Sara Arish"'
Autor:
Mehrdad Mirzarahimi, Mohammad Panahi, Bahareh Rahimi, Ehsan Abbaspour Rodboneh, Shadi Abkhiz, Tannaz Fattahi, Sara Arish, Behzad Davarnia
Publikováno v:
Discover Applied Sciences, Vol 6, Iss 11, Pp 1-12 (2024)
Abstract This study aims to examine TPO gene mutations in congenital hypothyroidism (CH) within consanguineous Iranian Azeri families. Three families were subjected to next-generation sequencing and were subsequently validated using Sanger sequencing
Externí odkaz:
https://doaj.org/article/07ce059acff24821b4d89fbf6cb8a46c
Autor:
Diana Mokhtari, Mohammad Jahanpanah, Nasim Jabbari, Hamed Azari, Sana Davarnia, Haleh Mokaber, Sara Arish, Rasol Molatefi, Vahid Abbasi, Behzad Davarnia
Publikováno v:
Human Genome Variation, Vol 11, Iss 1, Pp 1-4 (2024)
Abstract Hereditary ataxias are classified by inheritance patterns into autosomal dominant, autosomal recessive, X-linked, and mitochondrial modes of inheritance. A large group of adult hereditary ataxias have autosomal dominant inheritance, and auto
Externí odkaz:
https://doaj.org/article/fb5313e0a5954ad18fbce3f34596987f
Autor:
Mohammad Jahanpanah, Diana Mokhtari, Haleh Mokaber, Sara Arish, Farzad Ahmadabadi, Behzad Davarnia
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 12, Iss 4, Pp n/a-n/a (2024)
Abstract Background The ASNS (ASNS, MIM 108370) gene variations are responsible for asparagine synthetase deficiency (ASNSD, MIM 615574), a very rare autosomal recessive disease characterized by cerebral anomalies. These patients have congenital micr
Externí odkaz:
https://doaj.org/article/a14c84459ae3489ab47b8dd356746982