Search results - 2 results
Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease.
Richard Roxburgh; Benedikt Schoser; Sonia Segovia; Andriy Shatillo; Simone Thiele; Ivailo Tournev; Baziel van Engelen; Stanislav Vohanka; Hanns Lochmüller Source: Orphanet J Rare Dis, Volume 13, Issue ...
What can the CF registry tell us about rare CFTR-mutations? A Belgian study.
Publication Type: Peer reviewed scientific article Authors: De Wachter, E; Muriel Thomas; Simeon Wanyama; Seneca, S; Malfroot, A Source: Orphanet J Rare Dis, Volume 12, Issue 1, p.142 (2017) ...