Identification and clinical evaluation of segments of homozygosity, uniparental disomy and complex chromosomal abnormalities revealed by copy-number SNP arrays

被引:0
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作者
Jia-Chi Wang
Leslie Ross
Loretta W Mahon
Renius Owen
Morteza Hemmat
Boris T Wang
Mohammed El Naggar
Kimberly A Kopita
Mary Haddadin
Fatih Z Boyar
Arturo Anguiano
Charles M Strom
Trilochan Sahoo
机构
[1] Quest Diagnostics Nichols Institute,Cytogenetics Laboratory
关键词
Chromosomal Abnormality; Chromosomal Segment; Important Clue; Total Coverage; Autosomal Recessive Disorder;
D O I
10.1186/1755-8166-7-S1-O4
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