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Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.
J Clin Invest. 2024 Jan 2;134(1):e171235. doi: 10.1172/JCI171235.
J Clin Invest. 2024.
PMID: 37962958
Free PMC article.
The diagnostic rate of inherited metabolic disorders by exome sequencing in a cohort of 547 individuals with developmental disorders.
Delanne J, Bruel AL, Huet F, Moutton S, Nambot S, Grisval M, Houcinat N, Kuentz P, Sorlin A, Callier P, Jean-Marcais N, Mosca-Boidron AL, Mau-Them FT, Denommé-Pichon AS, Vitobello A, Lehalle D, El Chehadeh S, Francannet C, Lebrun M, Lambert L, Jacquemont ML, Gerard-Blanluet M, Alessandri JL, Willems M, Thevenon J, Chouchane M, Darmency V, Fatus-Fauconnier C, Gay S, Bournez M, Masurel A, Leguy V, Duffourd Y, Philippe C, Feillet F, Faivre L, Thauvin-Robinet C.
Delanne J, et al. Among authors: fatus fauconnier c.
Mol Genet Metab Rep. 2021 Oct 18;29:100812. doi: 10.1016/j.ymgmr.2021.100812. eCollection 2021 Dec.
Mol Genet Metab Rep. 2021.
PMID: 34712575
Free PMC article.
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