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Design, set-up and utility of the UK facioscapulohumeral muscular dystrophy patient registry

Facioscapulohumeral dystrophy (FSHD) is a rare inherited neuromuscular disease estimated to affect 1/15,000 people. Through basic research, remarkable progress has been made towards the development of targeted therapies. Patient identification, through registries or other means is essential for tria...

Πλήρης περιγραφή

Αποθηκεύτηκε σε:
Λεπτομέρειες βιβλιογραφικής εγγραφής
Τόπος έκδοσης:J Neurol
Κύριοι συγγραφείς: Evangelista, Teresinha, Wood, Libby, Fernandez-Torron, Roberto, Williams, Maggie, Smith, Debbie, Lunt, Peter, Hudson, Judith, Norwood, Fiona, Orrell, Richard, Willis, Tracey, Hilton-Jones, David, Rafferty, Karen, Guglieri, Michela, Lochmüller, Hanns
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: Springer Berlin Heidelberg 2016
Θέματα:
Διαθέσιμο Online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4929161/
https://ncbi.nlm.nih.gov/pubmed/27159994
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00415-016-8132-1
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