ProfileOfResearchers

TITLE: The TREAT-NMD DMD Global Database: Analysis of More than 7,000 Duchenne Muscular Dystrophy Mutations Full Text
AUTHORS: Catherine L Bladen; David Salgado; Soledad Monges; Maria E Foncuberta; Kyriaki Kekou; Konstantina Kosma; Hugh Dawkins; Leanne Lamont; Anna J Roy; Teodora Chamova; Velina Guergueltcheva; Sophelia Chan; Lawrence Korngut; Craig Campbell; Yi Dai; Jen Wang; Nina Barisic; Petr Brabec; Jaana Lahdetie; Maggie C Walter; Olivia Schreiber Katz; Veronika Karcagi; Marta Garami; Venkatarman Viswanathan; Farhad Bayat; Filippo Buccella; En Kimura; Zaida Koeks; Janneke C van den Bergen; Miriam Rodrigues; Richard Roxburgh; Anna Lusakowska; Anna Kostera Pruszczyk; Janusz Zimowski; Rosario Santos; Elena Neagu; Svetlana Artemieva; Vedrana Milic Rasic; Dina Vojinovic; Manuel Posada; Clemens Bloetzer; Pierre Yves Jeannet; Franziska Joncourt; Jordi Diaz Manera; Eduard Gallardo; Ayse A Karaduman; Haluk Topaloglu; Rasha El Sherif; Angela Stringer; Andriy V Shatillo; Ann S Martin; Holly L Peay; Matthew I Bellgard; Jan Kirschner; Kevin M Flanigan; Volker Straub; Kate Bushby; Jan Verschuuren; Annemieke Aartsma Rus; Christophe Beroud; Hanns Lochmueller; ...More
PUBLISHED: 2015, SOURCE: HUMAN MUTATION, VOLUME: 36, ISSUE: 4

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TITLE: Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus Full Text
AUTHORS: Beverley H Anderson; Paul R Kasher; Josephine Mayer; Marcin Szynkiewicz; Emma M Jenkinson; Sanjeev S Bhaskar; Jill E Urquhart; Sarah B Daly; Jonathan E Dickerson; James O'Sullivan; Elisabeth Oppliger Leibundgut; Joanne Muter; Ghada M H Abdel Salem; Riyana Babul Hirji; Peter Baxter; Andrea Berger; Luisa Bonafe; Janice E Brunstom Hernandez; Johannes A Buckard; David Chitayat; Wui K Chong; Duccio M Cordelli; Patrick Ferreira; Joel Fluss; Ewan H Forrest; Emilio Franzoni; Caterina Garone; Simon R Hammans; Gunnar Houge; Imelda Hughes; Sebastien Jacquemont; Pierre Yves Jeannet; Rosalind J Jefferson; Ram Kumar; Georg Kutschke; Staffan Lundberg; Charles M Lourenco; Ramesh Mehta; Sakkubai Naidu; Ken K Nischal; Luis Nunes; Katrin Ounap; Michel Philippart; Prab Prabhakar; Sarah R Risen; Raphael Schiffmann; Calvin Soh; John B P Stephenson; Helen Stewart; Jon Stone; John L Tolmie; Marjo S van der Knaap; Jose P Vieira; Catheline N Vilain; Emma L Wakeling; Vanessa Wermenbol; Andrea Whitney; Simon C Lovell; Stefan Meyer; John H Livingston; Gabriela M Baerlocher; Graeme C M Black; Gillian I Rice; Yanick J Crow; ...More
PUBLISHED: 2012, SOURCE: NATURE GENETICS, VOLUME: 44, ISSUE: 3

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