2015 | A novel mutation in DNAJB6, p.(Phe91Leu), in childhood-onset LGMD1D with a severe phenotype | 조안나 | Article |
2016 | Clinical applications of next-generation sequencing-based gene panel in patients with muscular dystrophy: Korean experience | 조안나 | Article |
2018 | Collagen VI-related myopathy: Expanding the clinical and genetic spectrum | 조안나 | Article |
2017 | CONSECUTIVE ANALYSIS OF MUTATION SPECTRUM IN THE DYSTROPHIN GENE OF 507 KOREAN BOYS WITH DUCHENNE/BECKER MUSCULAR DYSTROPHY IN A SINGLE CENTER | 조안나 | Article |
2014 | Electroencephalography in pediatric moyamoya disease: reappraisal of clinical value | 조안나 | Article |
2020 | Genomic profiling of 553 uncharacterized neurodevelopment patients reveals a high proportion of recessive pathogenic variant carriers in an outbred population | 조안나 | Article |
2019 | Importance of early diagnosis in LMNA-related muscular dystrophy for cardiac surveillance | 조안나 | Article |
2014 | Mutation profile of the GNE gene in Japanese patients with distal myopathy with rimmed vacuoles (GNE myopathy) | 조안나 | Article |
2016 | Pitfalls of Multiple Ligation-Dependent Probe Amplifications in Detecting DMD Exon Deletions or Duplications | 조안나 | Article |
2017 | S-nitrosylation Is Responsible for Muscle Atrophy and Weakness in GNE Myopathy | 조안나 | Meeting Abstract |
2017 | Severe hypotonia and postnatal growth impairment in a girl with a missense mutation in COL1A1: Implication of expanded phenotypic spectrum of type I collagenopathy | 조안나 | Article |
2017 | Sialic acid deficiency is associated with oxidative stress leading to muscle atrophy and weakness in GNE myopathy | 조안나 | Article |
2014 | Sialyllactose ameliorates myopathic phenotypes in symptomatic GNE myopathy model mice | 조안나 | Article |
2019 | The Korean undiagnosed diseases program: lessons from a one-year pilot project | 조안나 | Article |
2015 | Utility of next generation sequencing in genetic diagnosis of early onset neuromuscular disorders | 조안나 | Article |