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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2020 | 2 |
2022 | 1 |
2023 | 1 |
2024 | 1 |
Search Results
5 results
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Page 1
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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Reading between the (Genetic) Lines: How Epigenetics is Unlocking Novel Therapies for Type 1 Diabetes.
Akil AA, Jerman LF, Yassin E, Padmajeya SS, Al-Kurbi A, Fakhro KA.
Akil AA, et al. Among authors: al kurbi a.
Cells. 2020 Nov 3;9(11):2403. doi: 10.3390/cells9112403.
Cells. 2020.
PMID: 33153010
Free PMC article.
Review.
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PGAP3 Associated with Hyperphosphatasia with Mental Retardation Plays a Novel Role in Brain Morphogenesis and Neuronal Wiring at Early Development.
Da'as SI, Aamer W, Hasan W, Al-Maraghi A, Al-Kurbi A, Kilani H, AlRayahi J, Zamel K, Stotland MA, Fakhro KA.
Da'as SI, et al. Among authors: al kurbi a.
Cells. 2020 Jul 27;9(8):1782. doi: 10.3390/cells9081782.
Cells. 2020.
PMID: 32726939
Free PMC article.
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