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Article

Decision support methods for finding phenotype--disorder associations in the bone dysplasia domain.

PloS one - 1 Jan 2012

Paul Razan, Groza Tudor, Hunter Jane, Zankl Andreas

Abstract excerpt

A lack of mature domain knowledge and well established guidelines makes the medical diagnosis of skeletal dysplasias (a group of rare genetic disorders) a very complex process. Machine learning techniques can facilitate objective interpretation of medical observations for the purposes of decision...

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PMID: 23226331
DOI: 10.1371/journal.pone.0050614
PMCID: PMC3511538

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DST

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23226331-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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