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2022 | 2 |
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Page 1
A Novel Homozygous Founder Variant of RTN4IP1 in Two Consanguineous Saudi Families.
Cells. 2022 Oct 7;11(19):3154. doi: 10.3390/cells11193154.
Cells. 2022.
PMID: 36231115
Free PMC article.
Leveraging AI Advances and Online Tools for Structure-Based Variant Analysis.
Guzmán-Vega FJ, González-Álvarez AC, Peña-Guerra KA, Cardona-Londoño KJ, Arold ST.
Guzmán-Vega FJ, et al. Among authors: gonzalez alvarez ac.
Curr Protoc. 2023 Aug;3(8):e857. doi: 10.1002/cpz1.857.
Curr Protoc. 2023.
PMID: 37540795
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Further delineation of Wiedemann-Rautenstrauch syndrome linked with POLR3A.
Khan A, Al Shamsi B, Al Shehhi M, Kashgari AA, Al Balushi A, Al Dihan FA, Alghamdi MA, Manal A, González-Álvarez AC, Arold ST, Eyaid W.
Khan A, et al. Among authors: gonzalez alvarez ac.
Mol Genet Genomic Med. 2024 Mar;12(3):e2274. doi: 10.1002/mgg3.2274. Epub 2024 Feb 13.
Mol Genet Genomic Med. 2024.
PMID: 38348603
Free PMC article.
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Clinical, Radiological, and Genetic Characterization of a Patient with a Novel Homoallelic Loss-of-Function Variant in DNM1.
AlTassan R, AlQudairy H, Alromayan R, Alfalah A, AlHarbi OA, González-Álvarez AC, Arold ST, Kaya N.
AlTassan R, et al. Among authors: gonzalez alvarez ac.
Genes (Basel). 2022 Nov 30;13(12):2252. doi: 10.3390/genes13122252.
Genes (Basel). 2022.
PMID: 36553519
Free PMC article.
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