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Showing results 1 to 10 of 10

Issue DateTitleAuthor(s)Type
2015A novel mutation in DNAJB6, p.(Phe91Leu), in childhood-onset LGMD1D with a severe phenotype조안나Article
2016Clinical applications of next-generation sequencing-based gene panel in patients with muscular dystrophy: Korean experience조안나Article
2017CONSECUTIVE ANALYSIS OF MUTATION SPECTRUM IN THE DYSTROPHIN GENE OF 507 KOREAN BOYS WITH DUCHENNE/BECKER MUSCULAR DYSTROPHY IN A SINGLE CENTER조안나Article
2016Pitfalls of Multiple Ligation-Dependent Probe Amplifications in Detecting DMD Exon Deletions or Duplications조안나Article
2013R. Muczynski의 피아노 음악 특징 및 「Suite for Piano, Op.13」에 관한 연구조안나Master's Thesis
2017S-nitrosylation Is Responsible for Muscle Atrophy and Weakness in GNE Myopathy조안나Meeting Abstract
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
2012이메일 스트레스요인에 관한 연구조안나Master's Thesis

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