The French national registry for rare diseases: an integrated model from care to epidemiology and research

Por Choquet, Rémy, Landais, Paul
Publicado no Orphanet J Rare Dis (2014)

Towards data integration automation for the French rare disease registry

Por Maaroufi, Meriem, Choquet, Rémy, Landais, Paul, Jaulent, Marie-Christine
Publicado no AMIA Annu Symp Proc (2015)

A methodology for a minimum data set for rare diseases to support national centers of excellence for healthcare and research

Por Choquet, Rémy, Maaroufi, Meriem, de Carrara, Albane, Messiaen, Claude, Luigi, Emmanuel, Landais, Paul
Publicado no J Am Med Inform Assoc (2015)

LORD: a phenotype-genotype semantically integrated biomedical data tool to support rare disease diagnosis coding in health information systems

Por Choquet, Remy, Maaroufi, Meriem, Fonjallaz, Yannick, de Carrara, Albane, Vandenbussche, Pierre-Yves, Dhombres, Ferdinand, Landais, Paul
Publicado no AMIA Annu Symp Proc (2015)

Management of rare diseases of the Head, Neck and Teeth: results of a French population-based prospective 8-year study

Por Friedlander, Lisa, Choquet, Rémy, Galliani, Eva, de Chalendar, Myriam, Messiaen, Claude, Ruel, Amélie, Vazquez, Marie-Paule, Berdal, Ariane, Alberti, Corinne, De La Dure Molla, Muriel
Publicado no Orphanet J Rare Dis (2017)

Prevalence of fibrodysplasia ossificans progressiva (FOP) in France: an estimate based on a record linkage of two national databases

Por Baujat, Geneviève, Choquet, Rémy, Bouée, Stéphane, Jeanbat, Viviane, Courouve, Laurène, Ruel, Amélie, Michot, Caroline, Le Quan Sang, Kim-Hanh, Lapidus, David, Messiaen, Claude, Landais, Paul, Cormier-Daire, Valérie
Publicado no Orphanet J Rare Dis (2017)