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Article

Making headway with genetic diagnostics of intellectual disabilities.

Clinical genetics - 1 Feb 2014

Willemsen M H, Kleefstra T

Abstract excerpt

Until recently, the cause of intellectual disability (ID) remained unexplained in at least 50% of affected individuals. Recent advances in genetic technologies led to great new opportunities to elucidate genetic defects implicated in ID. The introduction of genome-wide technologies that are able to detect small chromosomal copy number variations led to the identification of several microdeletion/duplication...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 23895455
DOI: 10.1111/cge.12244

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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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