Detection of pathogenic gene copy number variations in patients with mental retardation by genomewid...
Detection of pathogenic gene copy number variations in patients with mental retardation by genomewide oligonucleotide array comparative genomic hybridization
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Hoboken: Wiley Subscription Services, Inc., A Wiley Company
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Language
English
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Publisher
Hoboken: Wiley Subscription Services, Inc., A Wiley Company
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Contents
Genomic imbalance is a major cause of developmental disorders. Microarray-based comparative genomic hybridization (aCGH) has revealed frequent imbalances associated with clinical syndromes, but also a large number of copy number variations (CNVs), which have complicated the interpretation of results. We studied 100 consecutive patients with unexpla...
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Full title
Detection of pathogenic gene copy number variations in patients with mental retardation by genomewide oligonucleotide array comparative genomic hybridization
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TN_cdi_proquest_miscellaneous_68419140
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_68419140
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ISSN
1059-7794
E-ISSN
1098-1004
DOI
10.1002/humu.20581
