检索结果 - Braun, Frederik

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  1. 1
    Diagnosing X-linked Myotubular Myopathy – A German 20-year Follow Up Experience

    Diagnosing X-linked Myotubular Myopathy – A German 20-year Follow Up Experience 由 Gangfuss, Andrea, Schmitt, Dirk, Roos, Andreas, Braun, Frederik, Annoussamy, Melanie, Servais, Laurent, Schara-Schmidt, Ulrike

    出版 2021
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  2. 2
    Expansion of the mutational spectrum of BMPER leading to diaphanospondylodysostosis and description of the associated disease process

    Expansion of the mutational spectrum of BMPER leading to diaphanospondylodysostosis and description of the associated disease process 由 Braun, Frederik, Gangfuß, Andrea, Stöbe, Petra, Haack, Tobias B., Schweiger, Bernd, Roos, Andreas, Schara, Ulrike

    出版 2021
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    Muscular and Molecular Pathology Associated with SPATA5 Deficiency in a Child with EHLMRS

    Muscular and Molecular Pathology Associated with SPATA5 Deficiency in a Child with EHLMRS 由 Braun, Frederik, Hentschel, Andreas, Sickmann, Albert, Marteau, Theodore, Hertel, Swantje, Förster, Fabian, Prokisch, Holger, Wagner, Matias, Wortmann, Saskia, Della Marina, Adela, Kölbel, Heike, Roos, Andreas, Schara-Schmidt, Ulrike

    出版 2021
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    Spectrum of Clinical Features in X-Linked Myotubular Myopathy Carriers: An International Questionnaire Study

    Spectrum of Clinical Features in X-Linked Myotubular Myopathy Carriers: An International Questionnaire Study 由 Reumers, Stacha F.I., Braun, Frederik, Spillane, Jennifer E., Böhm, Johann, Pennings, Maartje, Schouten, Meyke, van der Kooi, Anneke J., Foley, A. Reghan, Bönnemann, Carsten G., Kamsteeg, Erik-jan, Erasmus, Corrie E., Schara-Schmidt, Ulrike, Jungbluth, Heinz, Voermans, Nicol C.

    出版 2021
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