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Clinical variability in inherited glycosylphosphatidylinositol deficiency disorders.
Clin Genet. 2019 Jan;95(1):112-121. doi: 10.1111/cge.13425. Epub 2018 Aug 16.
Clin Genet. 2019.
PMID: 30054924
Review.
Inherited glycophosphatidylinositol deficiency variant database and analysis of pathogenic variants.
Baratang NV, Jimenez Cruz DA, Ajeawung NF, Nguyen TTM, Pacheco-Cuéllar G, Campeau PM.
Baratang NV, et al. Among authors: jimenez cruz da.
Mol Genet Genomic Med. 2019 Jul;7(7):e00743. doi: 10.1002/mgg3.743. Epub 2019 May 24.
Mol Genet Genomic Med. 2019.
PMID: 31127708
Free PMC article.
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Psychiatric features and variable neurodevelopment outcome in four females with IQSEC2 spectrum disorder.
Accogli A, Eric Jarvis G, Schiavetto A, Lai L, Amirali EL, Jimenez Cruz DA, Rivière JB, Trakadis Y.
Accogli A, et al. Among authors: jimenez cruz da.
J Genet. 2020;99:47.
J Genet. 2020.
PMID: 32529990
Free article.
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Defining the Genetic Landscape of Congenital Mirror Movements in 80 Affected Individuals.
Collins Hutchinson ML, St-Onge J, Schlienger S, Boudrahem-Addour N, Mougharbel L, Michaud JF, Lloyd C, Bruneau E, Roux C, Sahly AN, Osterman B, Myers KA, Rouleau GA, Jimenez Cruz DA, Rivière JB, Accogli A, Charron F, Srour M.
Collins Hutchinson ML, et al. Among authors: jimenez cruz da.
Mov Disord. 2024 Feb;39(2):400-410. doi: 10.1002/mds.29669. Epub 2024 Feb 5.
Mov Disord. 2024.
PMID: 38314870
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