Relative Burden of Large CNVs on a Range of Neurodevelopmental Phenotypes

While numerous studies have implicated copy number variants (CNVs) in a range of neurological phenotypes, the impact relative to disease severity has been difficult to ascertain due to small sample sizes, lack of phenotypic details, and heterogeneity in platforms used for discovery. Using a customiz...

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Hlavní autoři: Girirajan, Santhosh, Brkanac, Zoran, Coe, Bradley P., Baker, Carl, Vives, Laura, Vu, Tiffany H., Shafer, Neil, Bernier, Raphael, Ferrero, Giovanni B., Silengo, Margherita, Warren, Stephen T., Moreno, Carlos S., Fichera, Marco, Romano, Corrado, Raskind, Wendy H., Eichler, Evan E.
Médium: Artigo
Jazyk:Inglês
Vydáno: Public Library of Science 2011
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Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3213131/
https://ncbi.nlm.nih.gov/pubmed/22102821
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.1002334
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