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Volumn 90, Issue 3, 2016, Pages 230-237

Molecular genetic analysis in 14 Czech Kabuki syndrome patients is confirming the utility of phenotypic scoring

Author keywords

array CGH; Kabuki syndrome; KDM6A; KMT2D; MLL2; MLL2 Kabuki score; MLPA; phenotyping; Sanger DNA sequencing

Indexed keywords

COMPLEMENTARY DNA;

EID: 84983383630     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12754     Document Type: Article
Times cited : (17)

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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.