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De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders.
medRxiv [Preprint]. 2024 Apr 9:2024.04.07.24305438. doi: 10.1101/2024.04.07.24305438.
medRxiv. 2024.
PMID: 38645094
Free PMC article.
Preprint.
Elevated oxysterol and N-palmitoyl-O-phosphocholineserine levels in congenital disorders of glycosylation.
Dang Do AN, Chang IJ, Jiang X, Wolfe LA, Ng BG, Lam C, Schnur RE, Allis K, Hansikova H, Ondruskova N, O'Connor SD, Sanchez-Valle A, Vollo A, Wang RY, Wolfenson Z, Perreault J, Ory DS, Freeze HH, Merritt JL, Porter FD.
Dang Do AN, et al. Among authors: wolfenson z.
J Inherit Metab Dis. 2023 Mar;46(2):326-334. doi: 10.1002/jimd.12595. Epub 2023 Feb 3.
J Inherit Metab Dis. 2023.
PMID: 36719165
Free PMC article.
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