نتائج البحث - Braun, Frederik
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Expansion of the mutational spectrum of BMPER leading to diaphanospondylodysostosis and description of the associated disease process حسب Braun, Frederik, Gangfuß, Andrea, Stöbe, Petra, Haack, Tobias B., Schweiger, Bernd, Roos, Andreas, Schara, Ulrike
منشور في 2021نص -
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Muscular and Molecular Pathology Associated with SPATA5 Deficiency in a Child with EHLMRS حسب 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
منشور في 2021نص -
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Spectrum of Clinical Features in X-Linked Myotubular Myopathy Carriers: An International Questionnaire Study حسب 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.
منشور في 2021نص