Congenital Titinopathy: Comprehensive characterization and pathogenic insights

Emily C. Oates*, Kristi J. Jones, Sandra Donkervoort, Amanda Charlton, Susan Brammah, John E. Smith, James S. Ware, Kyle S. Yau, Lindsay C. Swanson, Nicola Whiffin, Anthony J. Peduto, Adam Bournazos, Leigh B. Waddell, Michelle A. Farrar, Hugo A. Sampaio, Hooi Ling Teoh, Phillipa J. Lamont, David Mowat, Robin B. Fitzsimons, Alastair J. CorbettMonique M. Ryan, Gina L. O'Grady, Sarah A. Sandaradura, Roula Ghaoui, Himanshu Joshi, Jamie L. Marshall, Melinda A. Nolan, Simranpreet Kaur, Jaya Punetha, Ana Töpf, Elizabeth Harris, Madhura Bakshi, Casie A. Genetti, Minttu Marttila, Ulla Werlauff, Nathalie Streichenberger, Alan Pestronk, Ingrid Mazanti, Jason R. Pinner, Carole Vuillerot, Carla Grosmann, Ana Camacho, Payam Mohassel, Meganne E. Leach, A. Reghan Foley, Diana Bharucha-Goebel, James Collins, Anne M. Connolly, Heather R. Gilbreath, Susan T. Iannaccone, Diana Castro, Beryl B. Cummings, Richard I. Webster, Leïla Lazaro, John Vissing, Sandra Coppens, Nicolas Deconinck, Ho Ming Luk, Neil H. Thomas, Nicola C. Foulds, Marjorie A. Illingworth, Sian Ellard, Catriona A. McLean, Rahul Phadke, Gianina Ravenscroft, Nanna Witting, Peter Hackman, Isabelle Richard, Sandra T. Cooper, Erik Jan Kamsteeg, Eric P. Hoffman, Kate Bushby, Volker Straub, Bjarne Udd, Ana Ferreiro, Kathryn N. North, Nigel F. Clarke, Monkol Lek, Alan H. Beggs, Carsten G. Bönnemann, Daniel G. MacArthur, Henk Granzier, Mark R. Davis, Nigel G. Laing

*Corresponding author af dette arbejde
37 Citationer (Scopus)

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Medicin og biovidenskab