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Affichage: 2 résultats.
    • Article de périodique
    FOXL2 and BPES: Mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation
    De Baere, Elfride Beysen, Diane Oley, Christine Lorenz, Birgit Cocquet, Julie De Sutter, Pascal[UCL] Devriendt, Koen Dixon, Michael Fellous, Marc Fryns, Jean-Pierre Garza, Arturo Jonsrud, Christoffer Koivisto, Pasi A. Krause, Amanda Leroy, Bart P. Meire, Françoise Plomp, Astrid Van Maldergem, Lionel De Paepe, Anne Veitia, Reiner Messiaen, Ludwine (2003) American Journal of Human Genetics — Vol. 72, no. 2, p. 478-487 (2003)
    • Article de périodique
    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)