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Feasibility of Follow-Up Studies and Reclassification in Spinocerebellar Ataxia Gene Variants of Unknown Significance.
Front Genet. 2022 Mar 25;13:782685. doi: 10.3389/fgene.2022.782685. eCollection 2022.
Front Genet. 2022.
PMID: 35401678
Free PMC article.
SEPT-GD: A decision tree to prioritise potential RNA splice variants in cardiomyopathy genes for functional splicing assays in diagnostics.
Alimohamed MZ, Boven LG, van Dijk KK, Vos YJ, Hoedemaekers YM, van der Zwaag PA, Sijmons RH, Jongbloed JDH, Sikkema-Raddatz B, Westers H.
Alimohamed MZ, et al. Among authors: van dijk kk.
Gene. 2023 Jan 30;851:146984. doi: 10.1016/j.gene.2022.146984. Epub 2022 Oct 18.
Gene. 2023.
PMID: 36270459
Free article.
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Diagnostic yield of targeted next generation sequencing in 2002 Dutch cardiomyopathy patients.
Alimohamed MZ, Johansson LF, Posafalvi A, Boven LG, van Dijk KK, Walters L, Vos YJ, Westers H, Hoedemaekers YM, Sinke RJ, Sijmons RH, Sikkema-Raddatz B, Jongbloed JDH, van der Zwaag PA.
Alimohamed MZ, et al. Among authors: van dijk kk.
Int J Cardiol. 2021 Jun 1;332:99-104. doi: 10.1016/j.ijcard.2021.02.069. Epub 2021 Mar 1.
Int J Cardiol. 2021.
PMID: 33662488
Free article.
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