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TÍTULO: EMQN best practice guidelines for genetic testing in dystrophinopathies
AUTORES: Carl Fratter; Raymond Dalgleish; Stephanie K Allen; Rosario Santos; Stephen Abbs; Sylvie Tuffery Giraud; Alessandra Ferlini;
PUBLICAÇÃO: 2020, FONTE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 28, NÚMERO: 9
INDEXADO EM: Scopus WOS
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TÍTULO: The TREAT-NMD Duchenne Muscular Dystrophy Registries: Conception, Design, and Utilization by Industry and Academia  Full Text
AUTORES: Catherine L Bladen; Karen Rafferty; Volker Straub; Soledad Monges; Angelica Moresco; Hugh Dawkins; Anna Roy; Teodora Chamova; Velina Guergueltcheva; Lawrence Korngut; Craig Campbell; Yi Dai; Nina Barisic; Tea Kos; Petr Brabec; Jes Rahbek; Jaana Lahdetie; Sylvie Tuffery Giraud; Mireille Claustres; France Leturcq; Rabah Ben Yaou; Maggie C Walter; Olivia Schreiber; Veronika Karcagi; Agnes Herczegfalvi; Venkatarman Viswanathan; Farhad Bayat; Isis de la Caridad Guerrero Sarmiento; Anna Ambrosini; Francesca Ceradini; En Kimura; Janneke C van den Bergen; Miriam Rodrigues; Richard Roxburgh; Anna Lusakowska; Jorge Oliveira; Rosario Santos; Elena Neagu; Niculina Butoianu; Svetlana Artemieva; Vedrana Milic Rasic; Manuel Posada; Francesc Palau; Bjorn Lindvall; Clemens Bloetzer; Ayse Karaduman; Haluk Topaloglu; Serap Inal; Piraye Oflazer; Angela Stringer; Andriy V Shatillo; Ann S Martin; Holly Peay; Kevin M Flanigan; David Salgado; Brigitta von Rekowski; Stephen Lynn; Emma Heslop; Sabina Gainotti; Domenica Taruscio; Jan Kirschner; Jan Verschuuren; Kate Bushby; Christophe Beroud; Hanns Lochmueller; ...Mais
PUBLICAÇÃO: 2013, FONTE: HUMAN MUTATION, VOLUME: 34, NÚMERO: 11
INDEXADO EM: Scopus WOS CrossRef