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Article

Phenotype profiling of patients with intellectual disability and copy number variations.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Sept 2014

Roselló Mónica, Martínez Francisco, Monfort Sandra, Mayo Sonia, Oltra Silvestre, Orellana Carmen

Abstract excerpt

BACKGROUND: Nowadays the microarray technology allows whole-genome analysis with a high resolution and performance for the genetic diagnosis in any patient with intellectual disability or autism spectrum disorder. However in the immediate future, with the development of massive sequencing systems for application at clinical diagnosis, it will be necessary to have clinical criteria to guide studies. AIM: To...

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Identifiers

PMID: 24815074
DOI: 10.1016/j.ejpn.2014.04.010

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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