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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.
Biallelic inherited SCN8A variants, a rare cause of SCN8A-related developmental and epileptic encephalopathy.
Wengert ER, Tronhjem CE, Wagnon JL, Johannesen KM, Petit H, Krey I, Saga AU, Panchal PS, Strohm SM, Lange J, Kamphausen SB, Rubboli G, Lemke JR, Gardella E, Patel MK, Meisler MH, Møller RS.
Wengert ER, et al. Among authors: tronhjem ce.
Epilepsia. 2019 Nov;60(11):2277-2285. doi: 10.1111/epi.16371. Epub 2019 Oct 17.
Epilepsia. 2019.
PMID: 31625145
Free PMC article.
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