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Application of Optical Genome Mapping to the Genetic Diagnosis of Facioscapulohumeral Muscular Dystrophy 1
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참고문헌 (16)
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관련 논문AI추천
Clinical Application of Optical Genome Mapping for Molecular Diagnosis of Facioscapulohumeral Muscular DystrophyChoi Jong Rak, Choi Young-Chul, Lee Seung-Tae, Park Hyung Jun, Seo Jieun, Shim Yeeun, Shin Saeam대한진단검사의학회 · Annals of Laboratory Medicine2024 · 제44권 제5호D4Z4 분석에 의해 진단된얼굴어깨위팔근육디스트로피고성호, 기창석, 이규용, 이석호, 이승철, 이영주, 임형균대한신경과학회 · 대한신경과학회지2008 · 제26권 제3호Whole Exome Sequencing of a Patient with Duchenne Muscular Dystrophy최봉석, 황수경대한소아신경학회 · 대한소아신경학회지2014 · 제22권 제1호First Identifcation of Compound Heterozygous FKRP Mutations in a Korean Patient with Limb-Girdle Muscular Dystrophy김승민, 박형준, 신하영, 이정환, 이지현, 최영철대한신경과학회 · Journal of Clinical Neurology2016 · 제12권 제1호Genotypic and Phenotypic Heterogeneity of LGMD1D due to DNAJB6 MutationsJosef Finsterer연세대학교의과대학 · Yonsei Medical Journal2018 · 제59권 제8호Extensive inflammatory reaction in facioscapulohumeral muscular dystrophy김대성, 박영은, 신진홍, 이창훈, 최재환대한임상신경생리학회 · Annals of Clinical Neurophysiology2017 · 제19권 제2호
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