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Semantic modelling of common data elements for rare disease registries, and a prototype workflow for their deployment over registry data.
Published in:
Journal of Biomedical Semantics, 2022, v. 13, n. 1, p. 1, doi. 10.1186/s13326-022-00264-6
By:
- Kaliyaperumal, Rajaram;
- Wilkinson, Mark D.;
- Moreno, Pablo Alarcón;
- Benis, Nirupama;
- Cornet, Ronald;
- dos Santos Vieira, Bruna;
- Dumontier, Michel;
- Bernabé, César Henrique;
- Jacobsen, Annika;
- Le Cornec, Clémence M. A.;
- Godoy, Mario Prieto;
- Queralt-Rosinach, Núria;
- Schultze Kool, Leo J.;
- Swertz, Morris A.;
- van Damme, Philip;
- van der Velde, K. Joeri;
- Lalout, Nawel;
- Zhang, Shuxin;
- Roos, Marco
Publication type:
Article
EURO-NMD registry: federated FAIR infrastructure, innovative technologies and concepts of a patient-centred registry for rare neuromuscular disorders.
Published in:
Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03059-3
By:
- Atalaia, Antonio;
- Wandrei, Dagmar;
- Lalout, Nawel;
- Thompson, Rachel;
- Tassoni, Adrian;
- 't Hoen, Peter A. C.;
- Athanasiou, Dimitrios;
- Baker, Suzie-Ann;
- Sakellariou, Paraskevi;
- Paliouras, Georgios;
- D'Angelo, Carla;
- Horvath, Rita;
- Mancuso, Michelangelo;
- van der Beek, Nadine;
- Kornblum, Cornelia;
- Kirschner, Janbernd;
- Pareyson, Davide;
- Bassez, Guillaume;
- Blacas, Laura;
- Jacoupy, Maxime
Publication type:
Article