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Hypomagnesaemia with varying degrees of extrarenal symptoms as a consequence of heterozygous CNNM2 variants.
Sci Rep. 2024 Mar 22;14(1):6917. doi: 10.1038/s41598-024-57061-7.
Sci Rep. 2024.
PMID: 38519529
Free PMC article.
Re-analysis of whole genome sequencing ends a diagnostic odyssey: Case report of an RNU4-2 related neurodevelopmental disorder.
Schot R, Ferraro F, Geeven G, Diderich KEM, Barakat TS.
Schot R, et al.
Clin Genet. 2024 Oct;106(4):512-517. doi: 10.1111/cge.14574. Epub 2024 Jun 11.
Clin Genet. 2024.
PMID: 38859706
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BRCC3-Associated Syndromic Moyamoya Angiopathy Diagnosed Through Clinical RNA Sequencing.
Venema M, Albuainain F, Schot R, Roozenbeek B, Sleutels F, van Ham T, Barakat TS.
Venema M, et al.
Clin Genet. 2024 Nov 17. doi: 10.1111/cge.14650. Online ahead of print.
Clin Genet. 2024.
PMID: 39552268
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