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Application of Optical Genome Mapping to the Genetic Diagnosis of Facioscapulohumeral Muscular Dystrophy 1

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dc.contributor.author이승태-
dc.date.accessioned2025-02-03T08:59:51Z-
dc.date.available2025-02-03T08:59:51Z-
dc.date.issued2024-09-
dc.identifier.issn2234-3806-
dc.identifier.urihttps://ir.ymlib.yonsei.ac.kr/handle/22282913/202080-
dc.description.statementOfResponsibilityopen-
dc.languageEnglish-
dc.publisherKorean Society for Laboratory Medicine-
dc.relation.isPartOfANNALS OF LABORATORY MEDICINE-
dc.rightsCC BY-NC-ND 2.0 KR-
dc.subject.MESHChromosome Mapping-
dc.subject.MESHHumans-
dc.subject.MESHMuscular Dystrophy, Facioscapulohumeral* / diagnosis-
dc.subject.MESHMuscular Dystrophy, Facioscapulohumeral* / genetics-
dc.subject.MESHMutation-
dc.titleApplication of Optical Genome Mapping to the Genetic Diagnosis of Facioscapulohumeral Muscular Dystrophy 1-
dc.typeArticle-
dc.contributor.collegeCollege of Medicine (의과대학)-
dc.contributor.departmentDept. of Laboratory Medicine (진단검사의학교실)-
dc.contributor.googleauthorSeung-Tae Lee-
dc.identifier.doi10.3343/alm.2024.0197-
dc.contributor.localIdA04627-
dc.relation.journalcodeJ00164-
dc.identifier.eissn2234-3814-
dc.identifier.pmid38845487-
dc.subject.keywordFacioscapulohumeral muscular dystrophy-
dc.subject.keywordOptical genome mapping-
dc.subject.keywordStructural variation-
dc.contributor.alternativeNameLee, Seung-Tae-
dc.contributor.affiliatedAuthor이승태-
dc.citation.volume44-
dc.citation.number5-
dc.citation.startPage383-
dc.citation.endPage384-
dc.identifier.bibliographicCitationANNALS OF LABORATORY MEDICINE, Vol.44(5) : 383-384, 2024-09-
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Laboratory Medicine (진단검사의학교실) > 1. Journal Papers

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