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Showing results 15 to 17 of 17

Issue DateTitleAuthor(s)Type
2017Severe hypotonia and postnatal growth impairment in a girl with a missense mutation in COL1A1: Implication of expanded phenotypic spectrum of type I collagenopathy조안나Article
2017Sialic acid deficiency is associated with oxidative stress leading to muscle atrophy and weakness in GNE myopathy조안나Article
2015Utility of next generation sequencing in genetic diagnosis of early onset neuromuscular disorders조안나Article
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