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Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database.
Eur J Hum Genet. 2020 Feb;28(2):165-173. doi: 10.1038/s41431-019-0508-0. Epub 2019 Sep 16.
Eur J Hum Genet. 2020.
PMID: 31527858
Free PMC article.
Harmonising phenomics information for a better interoperability in the rare disease field.
Maiella S, Olry A, Hanauer M, Lanneau V, Lourghi H, Donadille B, Rodwell C, Köhler S, Seelow D, Jupp S, Parkinson H, Groza T, Brudno M, Robinson PN, Rath A.
Maiella S, et al. Among authors: lanneau v.
Eur J Med Genet. 2018 Nov;61(11):706-714. doi: 10.1016/j.ejmg.2018.01.013. Epub 2018 Feb 7.
Eur J Med Genet. 2018.
PMID: 29425702
Review.
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Clinical Practice Guidelines for Rare Diseases: The Orphanet Database.
Pavan S, Rommel K, Mateo Marquina ME, Höhn S, Lanneau V, Rath A.
Pavan S, et al. Among authors: lanneau v.
PLoS One. 2017 Jan 18;12(1):e0170365. doi: 10.1371/journal.pone.0170365. eCollection 2017.
PLoS One. 2017.
PMID: 28099516
Free PMC article.
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