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A methodology for a minimum data set for rare diseases to support national centers of excellence for healthcare and research.
J Am Med Inform Assoc. 2015 Jan;22(1):76-85. doi: 10.1136/amiajnl-2014-002794. Epub 2014 Jul 18.
J Am Med Inform Assoc. 2015.
PMID: 25038198
Free PMC article.
LORD: a phenotype-genotype semantically integrated biomedical data tool to support rare disease diagnosis coding in health information systems.
Choquet R, Maaroufi M, Fonjallaz Y, de Carrara A, Vandenbussche PY, Dhombres F, Landais P.
Choquet R, et al. Among authors: de carrara a.
AMIA Annu Symp Proc. 2015 Nov 5;2015:434-40. eCollection 2015.
AMIA Annu Symp Proc. 2015.
PMID: 26958175
Free PMC article.
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