Výsledky vyhledávání - "Hiba, Alkhatabi"

Akademický článek

Whole Exome Sequencing Identifies Three Novel Mutations in the ASPM Gene From Saudi Families Leading to Primary Microcephaly

Autor: Muhammad Imran Naseer, Angham Abdulrahman Abdulkareem, Osama Yousef Muthaffar, Sameera Sogaty, Hiba Alkhatabi, Sarah Almaghrabi, Adeel G. Chaudhary

Publikováno v: Frontiers in Pediatrics, Vol 8 (2021)

Autosomal recessive primary microcephaly (MCPH) is a neurodevelopmental defect that is characterized by reduced head circumference at birth along with non-progressive intellectual disability. Till date, 25 genes related to MCPH have been reported so

Externí odkaz: https://doaj.org/article/6a65631b3f314ae18ee7a9b60daf7005

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Whole Exome Sequencing Identifies Three Novel Mutations in the

Autor: Muhammad Imran, Naseer, Angham Abdulrahman, Abdulkareem, Osama Yousef, Muthaffar, Sameera, Sogaty, Hiba, Alkhatabi, Sarah, Almaghrabi, Adeel G, Chaudhary

Publikováno v: Frontiers in Pediatrics

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::77b1bdeb3596cb61441cef4e3356d382
https://pubmed.ncbi.nlm.nih.gov/33643967

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