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A Biallelic Variant of the RNA Exosome Gene EXOSC4 Causes Translational Defects Associated with a Neurodevelopmental Disorder.
Fasken MB, Leung SW, Cureton LA, Al-Awadi M, Al-Kindy A, Khoshnevis S, Ghalei H, Al-Maawali A, Corbett AH. Fasken MB, et al. Among authors: al kindy a. medRxiv [Preprint]. 2023 Oct 28:2023.10.24.23297197. doi: 10.1101/2023.10.24.23297197. medRxiv. 2023. Update in: J Biol Chem. 2024 Aug;300(8):107571. doi: 10.1016/j.jbc.2024.107571 PMID: 37961665 Free PMC article. Updated. Preprint.
Uptake of prenatal genetic diagnosis and termination of pregnancy by Omani Muslim families at risk of genetic disorders: experience over a 9-year period.
Bruwer Z, Al Ubaidani S, Al Kharusi K, Al Murshedi F, Al-Maawali A, Al Sayegh A, Al Kindy A, Al Riyami N, Al Dughaishi T, Al Salmani M, Al Hashmi N, Al Shehhi M, Al Fahdi B, Al Amri S, Al-Thihli K. Bruwer Z, et al. Among authors: al kindy a. J Community Genet. 2022 Jun;13(3):303-311. doi: 10.1007/s12687-022-00584-1. Epub 2022 Feb 18. J Community Genet. 2022. PMID: 35179721 Free PMC article.
Applying whole exome sequencing in a consanguineous population with autism spectrum disorder.
Al-Mamari W, Idris AB, Al-Thihli K, Abdulrahim R, Jalees S, Al-Jabri M, Gabr A, Al Murshedi F, Al Kindy A, Al-Hadabi I, Bruwer Z, Islam MM, Alsayegh A. Al-Mamari W, et al. Among authors: al kindy a. Int J Dev Disabil. 2021 Jun 21;69(2):190-200. doi: 10.1080/20473869.2021.1937000. eCollection 2023. Int J Dev Disabil. 2021. PMID: 37025335 Free PMC article.
29 results