Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Maher Mohammed Al-Hatlani"'
Publikováno v:
Journal of Biochemical and Clinical Genetics, Vol 3, Iss 1, Pp 36-40 (2020)
Background: Mitochondrial DNA-depletion syndromes (MDDS) usually present with a wide spectrum of clinical manifestations, such as weakness, hypotonia, developmental delay, and/or seizures, and are categorized as myopathic, encephalomyopathic, hepatoc
Externí odkaz:
https://doaj.org/article/2f0703f9774443e689ddecd73cfc67b7
Publikováno v:
The American journal of case reports. 23
BACKGROUND Alagille syndrome (ALGS) is a multisystem hereditary illness with a dominant pattern and partial penetrance. Multiple organ abnormalities can be caused by mutations in the Jagged canonical Notch ligand 1 (JAG1) gene. Notch receptor 2 (NOTC
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::712c89a37ab7735779533cb59ef7e260
https://pubmed.ncbi.nlm.nih.gov/36201396
https://pubmed.ncbi.nlm.nih.gov/36201396
Autor:
Maher Mohammed Al-Hatlani
Publikováno v:
Academic Journal of Pediatrics & Neonatology. 9
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::477f3e39093cb8faad3e5199b479df96
https://doi.org/10.19080/ajpn.2020.08.555810
https://doi.org/10.19080/ajpn.2020.08.555810