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2022 | 2 |
2024 | 2 |
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Page 1
A de novo start-loss in EFTUD2 associated with mandibulofacial dysostosis with microcephaly: case report.
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.
A loss-of-function AGTR1 variant in a critically-ill infant with renal tubular dysgenesis: case presentation and literature review.
Al-Maraghi A, Aamer W, Ziab M, Aliyev E, Elbashir N, Hussein S, Palaniswamy S, Anand D, Love DR, Charles A, A S Akil A, Fakhro KA.
Al-Maraghi A, et al. Among authors: elbashir n.
BMC Nephrol. 2024 Apr 22;25(1):139. doi: 10.1186/s12882-024-03569-z.
BMC Nephrol. 2024.
PMID: 38649831
Free PMC article.
Review.
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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. Among authors: elbashir n.
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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Integrating Genome Sequencing and Untargeted Metabolomics in Monozygotic Twins with a Rare Complex Neurological Disorder.
Shaath R, Al-Maraghi A, Ali H, AlRayahi J, Kennedy AD, DeBalsi KL, Hussein S, Elbashir N, Padmajeya SS, Palaniswamy S, Elsea SH, Akil AA, Yousri NA, Fakhro KA.
Shaath R, et al. Among authors: elbashir n.
Metabolites. 2024 Mar 4;14(3):152. doi: 10.3390/metabo14030152.
Metabolites. 2024.
PMID: 38535312
Free PMC article.
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