6q22.1 microdeletion and susceptibility to pediatric epilepsy

Genomic copy-number variations (CNVs) constitute an important cause of epilepsies and other human neurological disorders. Recent advancement of technologies integrating genome-wide CNV mapping and sequencing is rapidly expanding the molecular field of pediatric neurodevelopmental disorders. In a pre...

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Vydáno v:Eur J Hum Genet
Hlavní autoři: Szafranski, Przemyslaw, Von Allmen, Gretchen K, Graham, Brett H, Wilfong, Angus A, Kang, Sung-Hae L, Ferreira, Jose A, Upton, Sheila J, Moeschler, John B, Bi, Weimin, Rosenfeld, Jill A, Shaffer, Lisa G, Wai Cheung, Sau, Stankiewicz, Paweł, Lalani, Seema R
Médium: Artigo
Jazyk:Inglês
Vydáno: Nature Publishing Group 2015
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4297903/
https://ncbi.nlm.nih.gov/pubmed/24824130
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2014.75
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