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Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder.
Genet Med. 2021 Nov;23(11):2150-2159. doi: 10.1038/s41436-021-01263-1. Epub 2021 Aug 3.
Genet Med. 2021.
PMID: 34345024
Free article.
Two de novo GluN2B mutations affect multiple NMDAR-functions and instigate severe pediatric encephalopathy.
Kellner S, Abbasi A, Carmi I, Heinrich R, Garin-Shkolnik T, Hershkovitz T, Giladi M, Haitin Y, Johannesen KM, Steensbjerre Møller R, Berlin S.
Kellner S, et al. Among authors: steensbjerre moller r.
Elife. 2021 Jul 2;10:e67555. doi: 10.7554/eLife.67555.
Elife. 2021.
PMID: 34212862
Free PMC article.
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