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Clinical Diagnostics in Human Genetics with Semantic Similarity Searches in Ontologies

The differential diagnostic process attempts to identify candidate diseases that best explain a set of clinical features. This process can be complicated by the fact that the features can have varying degrees of specificity, as well as by the presence of features unrelated to the disease itself. Dep...

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Autori principali: Köhler, Sebastian, Schulz, Marcel H., Krawitz, Peter, Bauer, Sebastian, Dölken, Sandra, Ott, Claus E., Mundlos, Christine, Horn, Denise, Mundlos, Stefan, Robinson, Peter N.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Elsevier 2009
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC2756558/
https://ncbi.nlm.nih.gov/pubmed/19800049
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2009.09.003
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