A High-Resolution Copy Number Variation Resource for Clinical and Population Genetics

PURPOSE: Chromosomal microarray analysis to assess copy number variation (CNV) has become a first tier genetic diagnostic test for individuals with unexplained neurodevelopmental disorders (NDD) or multiple congenital anomalies (MCA). Over 100 cytogenetic labs worldwide use the new ultra-high resolu...

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Pubblicato in:Genet Med
Autori principali: Uddin, Mohammed, Thiruvahindrapuram, Bhooma, Walker, Susan, Wang, Zhuozhi, Hu, Pingzhao, Lamoureux, Sylvia, Wei, John, MacDonald, Jeffrey R., Pellecchia, Giovanna, Lu, Chao, Lionel, Anath C., Gazzellone, Matthew J., McLaughlin, John R., Brown, Catherine, Andrulis, Irene L., Knight, Julia A., Herbrick, Jo-Anne, Wintle, Richard F., Ray, Peter, Stavropoulos, Dimitri J., Marshall, Christian R., Scherer, Stephen W.
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2014
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4752593/
https://ncbi.nlm.nih.gov/pubmed/25503493
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/gim.2014.178
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