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 |
2013 | R. Muczynski의 피아노 음악 특징 및 「Suite for Piano, Op.13」에 관한 연구 | 조안나 | Master's Thesis |
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 |
2012 | 이메일 스트레스요인에 관한 연구 | 조안나 | Master's Thesis |