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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 Complex Intrachromosomal Rearrangement Disrupting IRF6 in a Family with Popliteal Pterygium and Van der Woude Syndromes.
Al-Kurbi AA, Aliyev E, AlSa'afin S, Aamer W, Palaniswamy S, Al-Maraghi A, Kilani H, Akil AA, Stotland MA, Fakhro KA.
Al-Kurbi AA, et al.
Genes (Basel). 2023 Mar 31;14(4):849. doi: 10.3390/genes14040849.
Genes (Basel). 2023.
PMID: 37107607
Free PMC article.
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A recessive variant in SIM2 in a child with complex craniofacial anomalies and global developmental delay.
Al-Kurbi AA, Da'as SI, Aamer W, Krishnamoorthy N, Poggiolini I, Abdelrahman D, Elbashir N, Al-Shabeeb Akil A, Glass GE, Fakhro KA.
Al-Kurbi AA, et al.
Eur J Med Genet. 2022 Apr;65(4):104455. doi: 10.1016/j.ejmg.2022.104455. Epub 2022 Feb 16.
Eur J Med Genet. 2022.
PMID: 35182808
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