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Year | Number of Results |
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2022 | 1 |
2024 | 2 |
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A loss-of-function AGTR1 variant in a critically-ill infant with renal tubular dysgenesis: case presentation and literature review.
BMC Nephrol. 2024 Apr 22;25(1):139. doi: 10.1186/s12882-024-03569-z.
BMC Nephrol. 2024.
PMID: 38649831
Free PMC article.
Review.
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.
Metabolites. 2024 Mar 4;14(3):152. doi: 10.3390/metabo14030152.
Metabolites. 2024.
PMID: 38535312
Free PMC article.
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Patterns and distribution of de novo mutations in multiplex Middle Eastern families.
Kohailan M, Aamer W, Syed N, Padmajeya S, Hussein S, Sayed A, Janardhanan J, Palaniswamy S, El Hajj N, Al-Shabeeb Akil A, Fakhro KA.
Kohailan M, et al.
J Hum Genet. 2022 Oct;67(10):579-588. doi: 10.1038/s10038-022-01054-9. Epub 2022 Jun 20.
J Hum Genet. 2022.
PMID: 35718832
Free PMC article.
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