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2023-11-07 加入
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Retrospective analysis of persistent HyperCKemia with or without muscle weakness in a case series from Greece highlights vast DMD variant heterogeneity
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Molecular analysis of 12 Chinese patients with 11β‐hydroxylase deficiency and in vitro functional study of 20 CYP11B1 missense variants
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Clinical features and electron transfer flavoprotein dehydrogenase gene mutation analysis in 35 Chinese patients with lipid storage myopathy
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[Clinical characteristics and CBS gene analysis of 13 cases with classic homocystinuria]
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