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Article

Next-generation sequencing in childhood disorders.

Archives of disease in childhood - 1 Mar 2014

Schnekenberg Ricardo Parolin, Németh Andrea H

Abstract excerpt

Genetics has been revolutionised by recent technologies. The latest addition to these advances is next-generation sequencing, which is set to transform clinical diagnostics in every branch of medicine. In the research arena this has already been instrumental in identifying hundreds of novel genetic syndromes, making a molecular diagnosis possible for the first time in numerous refractory cases. However, the pace...

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Identifiers

PMID: 24170689
DOI: 10.1136/archdischild-2012-302881

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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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