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Application of Optical Genome Mapping to the Genetic Diagnosis of Facioscapulohumeral Muscular Dystrophy 1
DC Field | Value | Language |
---|---|---|
dc.contributor.author | 이승태 | - |
dc.date.accessioned | 2025-02-03T08:59:51Z | - |
dc.date.available | 2025-02-03T08:59:51Z | - |
dc.date.issued | 2024-09 | - |
dc.identifier.issn | 2234-3806 | - |
dc.identifier.uri | https://ir.ymlib.yonsei.ac.kr/handle/22282913/202080 | - |
dc.description.statementOfResponsibility | open | - |
dc.language | English | - |
dc.publisher | Korean Society for Laboratory Medicine | - |
dc.relation.isPartOf | ANNALS OF LABORATORY MEDICINE | - |
dc.rights | CC BY-NC-ND 2.0 KR | - |
dc.subject.MESH | Chromosome Mapping | - |
dc.subject.MESH | Humans | - |
dc.subject.MESH | Muscular Dystrophy, Facioscapulohumeral* / diagnosis | - |
dc.subject.MESH | Muscular Dystrophy, Facioscapulohumeral* / genetics | - |
dc.subject.MESH | Mutation | - |
dc.title | Application of Optical Genome Mapping to the Genetic Diagnosis of Facioscapulohumeral Muscular Dystrophy 1 | - |
dc.type | Article | - |
dc.contributor.college | College of Medicine (의과대학) | - |
dc.contributor.department | Dept. of Laboratory Medicine (진단검사의학교실) | - |
dc.contributor.googleauthor | Seung-Tae Lee | - |
dc.identifier.doi | 10.3343/alm.2024.0197 | - |
dc.contributor.localId | A04627 | - |
dc.relation.journalcode | J00164 | - |
dc.identifier.eissn | 2234-3814 | - |
dc.identifier.pmid | 38845487 | - |
dc.subject.keyword | Facioscapulohumeral muscular dystrophy | - |
dc.subject.keyword | Optical genome mapping | - |
dc.subject.keyword | Structural variation | - |
dc.contributor.alternativeName | Lee, Seung-Tae | - |
dc.contributor.affiliatedAuthor | 이승태 | - |
dc.citation.volume | 44 | - |
dc.citation.number | 5 | - |
dc.citation.startPage | 383 | - |
dc.citation.endPage | 384 | - |
dc.identifier.bibliographicCitation | ANNALS OF LABORATORY MEDICINE, Vol.44(5) : 383-384, 2024-09 | - |
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