Zoekresultaten - 2 results

Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease.

Rodrigues, Miriam; Roxburgh, Richard; Schoser, Benedikt; Segovia, Sonia; Shatillo, Andriy; Thiele, Simone; Tournev, Ivailo; van Engelen, Baziel; Vohanka, Stanislav; Hanns, Lochmüller Source: Orphanet J Rare ...

What can the CF registry tell us about rare CFTR-mutations? A Belgian study.

Publication Type: Peer reviewed scientific article Authors: De Wachter, E; Thomas, Muriel; Wanyama, Simeon Situma; Seneca, S; Malfroot, A Source: Orphanet J Rare Dis, Volume 12, Issue 1, p.142 ...

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