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Displaying 2 results.
    • Journal article
    Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness
    Johnson, Katherine Bertoli, Marta Phillips, Lauren Töpf, Ana Van den Bergh, Peter[UCL] Vissing, John Witting, Nanna Nafissi, Shahriar Jamal-Omidi, Shirin Łusakowska, Anna Kostera-Pruszczyk, Anna Potulska-Chromik, Anna Deconinck, Nicolas Wallgren-Pettersson, Carina Strang-Karlsson, Sonja Colomer, Jaume Claeys, Kristl G. De Ridder, Willem Baets, Jonathan von der Hagen, Maja Fernández-Torrón, Roberto Zulaica Ijurco, Miren Espinal Valencia, Juan Bautista Hahn, Andreas Durmus, Hacer Willis, Tracey Xu, Liwen Valkanas, Elise Mullen, Thomas E. Lek, Monkol MacArthur, Daniel G. Straub, Volker (2018) Skeletal Muscle — Vol. 8, no. 1, p. 23 [1-12] (2018)
    • Journal article
    Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service
    Westra, Dineke Schouten, Meyke I. Stunnenberg, Bas C. Kusters, Benno Saris, Christiaan G.J. Erasmus, Corrie E. van Engelen, Baziel G. Bulk, Saskia Verschuuren-Bemelmans, Corien C. Gerkes, E.H. de Geus, Christa van der Zwaag, P.A. Chan, Sophelia Chung, Brian Barge-Schaapveld, Daniela Q.C.M. Kriek, Marjolein Sznajer, Yves[UCL] van Spaendonck-Zwarts, Karin van der Kooi, Anneke J. Krause, Amanda Schönewolf-Greulich, Bitten de Die-Smulders, Christine Sallevelt, Suzanne C.E.H. Krapels, Ingrid P.C. Rasmussen, Magnhild Maystadt, Isabelle Kievit, Anneke J.A. Witting, Nanna Pennings, Maartje Meijer, Rowdy Gillissen, Christian Kamsteeg, Erik-Jan Voermans, Nicol C. (2019) Journal of Neuromuscular Diseases — Vol. 6, no.2, p. 241-258 (2019)