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CAMK2D De Novo Missense Variant in Patient with Syndromic Neurodevelopmental Disorder: A Case Report.
Genes (Basel). 2023 May 28;14(6):1177. doi: 10.3390/genes14061177.
Genes (Basel). 2023.
PMID: 37372357
Free PMC article.
Molecular diagnosis of tuberous sclerosis complex in fetuses and infants: an institutional case series.
Bolshakova AS, Maslennikov DN, Shubina J, Bystritskiy AA, Tolmacheva ER, Mukosey IS, Kochetkova TO, Vasiliev GS, Atapina EE, Sadelov IO, Zaretskaya NV, Barkov IY, Degtyarev DN, Trofimov DY.
Bolshakova AS, et al. Among authors: vasiliev gs.
J Clin Pathol. 2023 Aug 3:jcp-2023-208935. doi: 10.1136/jcp-2023-208935. Online ahead of print.
J Clin Pathol. 2023.
PMID: 37536923
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