SNP arrays: comparing diagnostic yields for four platforms in children with developmental delay

BACKGROUND: Molecular karyotyping is now the first-tier genetic test for patients affected with unexplained intellectual disability (ID) and/or multiple congenital anomalies (MCA), since it identifies a pathogenic copy number variation (CNV) in 10-14% of them. High-resolution microarrays combining m...

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Detalhes bibliográficos
Publicado no:BMC Med Genomics
Main Authors: D’Amours, Guylaine, Langlois, Mathieu, Mathonnet, Géraldine, Fetni, Raouf, Nizard, Sonia, Srour, Myriam, Tihy, Frédérique, S Phillips, Michael, L Michaud, Jacques, Lemyre, Emmanuelle
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2014
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4299176/
https://ncbi.nlm.nih.gov/pubmed/25539807
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12920-014-0070-0
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