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Burden of Mendelian disorders in a large Middle Eastern biobank.
Genome Med. 2024 Apr 8;16(1):46. doi: 10.1186/s13073-024-01307-6.
Genome Med. 2024.
PMID: 38584274
Free PMC article.
A de novo start-loss in EFTUD2 associated with mandibulofacial dysostosis with microcephaly: case report.
Kohailan M, Al-Saei O, Padmajeya S, Aamer W, Elbashir N, Al-Shabeeb Akil A, Kamboh AR, Fakhro K.
Kohailan M, et al. Among authors: al saei o.
Cold Spring Harb Mol Case Stud. 2022 Jun 22;8(4):a006206. doi: 10.1101/mcs.a006206. Print 2022 Jun.
Cold Spring Harb Mol Case Stud. 2022.
PMID: 35732499
Free PMC article.
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