Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Haleh Mokaber"'
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
Publikováno v:
Human Genome Variation, Vol 10, Iss 1, Pp 1-3 (2023)
Abstract A 30-year-old male couple from Ardabil city, Iran, were admitted for premarital screening. An abnormal band in HbS/D regions with high levels of HbF and HbA 2 led us to suspect the possibility of a compound heterozygous state of β-thalassem
Externí odkaz:
https://doaj.org/article/8c16a6c63e354d0194880f4cf4fb2292