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Predictive diagnostic value for the clinical features accompanying intellectual disability in children with pathogenic copy number variations: a multivariate analysis

BACKGROUND: Array comparative genomic hybridization (a-CGH) has become the first-tier investigation in patients with unexplained developmental delay/intellectual disability (DD/ID). Although the costs are progressively decreasing, a-CGH is still an expensive and labour-intensive technique: for this...

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Detalles Bibliográficos
Autores principales: Caramaschi, Elisa, Stanghellini, Ilaria, Magini, Pamela, Giuffrida, Maria Grazia, Scullin, Silvia, Giuva, Tiziana, Bergonzini, Patrizia, Guerra, Azzurra, Paolucci, Paolo, Percesepe, Antonio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4014206/
https://www.ncbi.nlm.nih.gov/pubmed/24775911
http://dx.doi.org/10.1186/1824-7288-40-39