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A recessive variant in SIM2 in a child with complex craniofacial anomalies and global developmental delay.
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
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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Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W, Al-Maraghi A, Syed N, Gandhi GD, Aliyev E, Al-Kurbi AA, Al-Saei O, Kohailan M, Krishnamoorthy N, Palaniswamy S, Al-Malki K, Abbasi S, Agrebi N, Abbaszadeh F, Akil ASA, Badii R, Ben-Omran T, Lo B; Qatar Genome Program Research Consortium; Mokrab Y, Fakhro KA.
Aamer W, et al. Among authors: al kurbi aa.
Genome Med. 2024 Apr 8;16(1):46. doi: 10.1186/s13073-024-01307-6.
Genome Med. 2024.
PMID: 38584274
Free PMC article.
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