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The Italian National Registry for FSHD: an enhanced data integration and an analytics framework towards Smart Health Care and Precision Medicine for a rare disease

BACKGROUND: The Italian Clinical network for FSHD (ICNF) has established the Italian National Registry for FSHD (INRF), collecting data from patients affected by Facioscapulohumeral dystrophy (FSHD) and their relatives. The INRF has gathered data from molecular analysis, clinical evaluation, anamnes...

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Detalles Bibliográficos
Autores principales: Bettio, Cinzia, Salsi, Valentina, Orsini, Mirko, Calanchi, Enrico, Magnotta, Luca, Gagliardelli, Luca, Kinoshita, June, Bergamaschi, Sonia, Tupler, Rossella
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8567605/
https://www.ncbi.nlm.nih.gov/pubmed/34736505
http://dx.doi.org/10.1186/s13023-021-02100-z