Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Fatemeh Sarlaki"'
Publikováno v:
Journal of Medical Case Reports, Vol 16, Iss 1, Pp 1-7 (2022)
Abstract Background Cystinosis is an autosomal recessive disorder characterized by an accumulation of the amino acid cystine in lysosomes throughout the body. Cystinosis is an inherited disease resulting from the failure of lysosomal cystine transpor
Externí odkaz:
https://doaj.org/article/12736bd39acf401cbffaa39d13a37d72
Publikováno v:
Clinical Case Reports, Vol 10, Iss 3, Pp n/a-n/a (2022)
Abstract This investigation revealed a homozygous c.5069‐1G>C variation in TENM3 gene although has not been reported for its pathogenicity and can be considered as a novel mutation. The present finding can be used for genetic diagnosis and detectio
Externí odkaz:
https://doaj.org/article/288e9245c29944f7bf4d28c6b26458f6
Autor:
Fatemeh Sarlaki, Zahra Shahsavari, Fatemeh Goshadrou, Faezeh Naseri, Mohammad Keimasi, Majid Sirati-Sabet
Publikováno v:
BioMedicine. 12:44-54
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::cb58b81eaa90e7f6bd644fab77e99c59
https://doi.org/10.37796/2211-8039.1341
https://doi.org/10.37796/2211-8039.1341
Autor:
Faezeh Naseri, Majid Sirati-Sabet, Fatemeh Sarlaki, Mohammad Keimasi, Poneh Mokarram, Morvarid Siri, Rasoul Ghasemi, Zahra Shahsavari, Fatemeh Goshadrou
Alzheimer's disease (AD) is a common progressive and irreversible neurodegenerative disorder. Neuronal loss in the brain is one of the important characteristic features of AD, which is along with memory and cognitive dysfunction. Activation of progra
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3b3915aaadf21c6e9ef50eed17f9f1c8
https://doi.org/10.21203/rs.3.rs-1726826/v1
https://doi.org/10.21203/rs.3.rs-1726826/v1
Autor:
fatemeh sarlaki, Saeid Morovvati
Two Iranian patients presented in this study was suffering from cystinosis diagnosed based on their clinical symptoms and laboratory tests. The variations c.257_258delCT and c.323delA in the CTNS gene found in them are frameshifts and truncating muta
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1b9c4aad2f4c5d0e43944a12e05ab818
https://doi.org/10.22541/au.164119323.39952354/v1
https://doi.org/10.22541/au.164119323.39952354/v1