Arama Sonuçları - Wilken, Bernd

A Novel Mutation in PIGA Associated with Multiple Congenital Anomalies-Hypotonia-Seizure Syndrome 2 (MCAHS2) in a Boy with a Combination of Severe Epilepsy and Gingival Hyperplasia Yazar: Neuhofer, Christiane M., Funke, Rudolf, Wilken, Bernd, Knaus, Alexej, Altmüller, Janine, Nürnberg, Peter, Li, Yun, Wollnik, Bernd, Burfeind, Peter, Pauli, Silke

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Familial cleft tongue caused by a unique translation initiation codon variant in TP63 Yazar: Schmidt, Julia, Schreiber, Gudrun, Altmüller, Janine, Thiele, Holger, Nürnberg, Peter, Li, Yun, Kaulfuß, Silke, Funke, Rudolf, Wilken, Bernd, Yigit, Gökhan, Wollnik, Bernd

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Real-World Evidence Study on the Long-Term Safety of Everolimus in Patients With Tuberous Sclerosis Complex: Final Analysis Results Yazar: Ruiz-Falcó Rojas, María Luz, Feucht, Martha, Macaya, Alfons, Wilken, Bernd, Hahn, Andreas, Maamari, Ricardo, Hirschberg, Yulia, Ridolfi, Antonia, Kingswood, John Chris

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Changes in the Cerebrospinal Fluid and Plasma Lipidome in Patients with Rett Syndrome Yazar: Zandl-Lang, Martina, Züllig, Thomas, Trötzmüller, Martin, Naegelin, Yvonne, Abela, Lucia, Wilken, Bernd, Scholl-Buergi, Sabine, Karall, Daniela, Kappos, Ludwig, Köfeler, Harald, Plecko, Barbara

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Behandlung der Sialorrhoe mit Botulinum Neurotoxin Typ A – Konsentierte Praxisempfehlungen für Kinder und Erwachsene Yazar: Jost, Wolfgang H., Bäumer, Tobias, Bevot, Andrea, Birkmann, Ulrich, Buhmann, Carsten, Grosheva, Maria, Guntinas-Lichius, Orlando, Mlynczak, Ute, Paus, Sebastian, Pflug, Christina, Schröder, Sebastian, Steffen, Armin, Wilken, Bernd, Berweck, Steffen

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Erratum: Behandlung der Sialorrhoe mit Botulinum Neurotoxin Typ A – Konsentierte Praxisempfehlungen für Kinder und Erwachsene Yazar: Jost, Wolfgang H., Bäumer, Tobias, Bevot, Andrea, Birkmann, Ulrich, Buhmann, Carsten, Grosheva, Maria, Guntinas-Lichius, Orlando, Mlynczak, Ute, Paus, Sebastian, Pflug, Christina, Schröder, Sebastian, Steffen, Armin, Wilken, Bernd, Berweck, Steffen

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Safety and efficacy of mTOR inhibitor treatment in patients with tuberous sclerosis complex under 2 years of age – a multicenter retrospective study Yazar: Saffari, Afshin, Brösse, Ines, Wiemer-Kruel, Adelheid, Wilken, Bernd, Kreuzaler, Paula, Hahn, Andreas, Bernhard, Matthias K., van Tilburg, Cornelis M., Hoffmann, Georg F., Gorenflo, Matthias, Hethey, Sven, Kaiser, Olaf, Kölker, Stefan, Wagner, Robert, Witt, Olaf, Merkenschlager, Andreas, Möckel, Andreas, Roser, Timo, Schlump, Jan-Ulrich, Serfling, Antje, Spiegler, Juliane, Milde, Till, Ziegler, Andreas, Syrbe, Steffen

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FAHN/SPG35: a narrow phenotypic spectrum across disease classifications Yazar: Rattay, Tim W, Lindig, Tobias, Baets, Jonathan, Smets, Katrien, Deconinck, Tine, Söhn, Anne S, Hörtnagel, Konstanze, Eckstein, Kathrin N, Wiethoff, Sarah, Reichbauer, Jennifer, Döbler-Neumann, Marion, Krägeloh-Mann, Ingeborg, Auer-Grumbach, Michaela, Plecko, Barbara, Münchau, Alexander, Wilken, Bernd, Janauschek, Marc, Giese, Anne-Katrin, De Bleecker, Jan L, Ortibus, Els, Debyser, Martine, Lopez de Munain, Adolfo, Pujol, Aurora, Bassi, Maria Teresa, D’Angelo, Maria Grazia, De Jonghe, Peter, Züchner, Stephan, Bauer, Peter, Schöls, Ludger, Schüle, Rebecca

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Direct and indirect costs and cost-driving factors of Tuberous sclerosis complex in children, adolescents, and caregivers: a multicenter cohort study Yazar: Grau, Janina, Zöllner, Johann Philipp, Schubert-Bast, Susanne, Kurlemann, Gerhard, Hertzberg, Christoph, Wiemer-Kruel, Adelheid, Bast, Thomas, Bertsche, Astrid, Bettendorf, Ulrich, Fiedler, Barbara, Hahn, Andreas, Hartmann, Hans, Hornemann, Frauke, Immisch, Ilka, Jacobs, Julia, Kieslich, Matthias, Klein, Karl Martin, Klotz, Kerstin A., Kluger, Gerhard, Knuf, Markus, Mayer, Thomas, Marquard, Klaus, Meyer, Sascha, Muhle, Hiltrud, Müller-Schlüter, Karen, Noda, Anna H., Ruf, Susanne, Sauter, Matthias, Schlump, Jan-Ulrich, Syrbe, Steffen, Thiels, Charlotte, Trollmann, Regina, Wilken, Bernd, Willems, Laurent M., Rosenow, Felix, Strzelczyk, Adam

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Efficacy, Retention and Tolerability of Everolimus in Patients with Tuberous Sclerosis Complex: A Survey-Based Study on Patients’ Perspectives Yazar: Willems, Laurent M., Rosenow, Felix, Schubert-Bast, Susanne, Kurlemann, Gerhard, Zöllner, Johann Philipp, Bast, Thomas, Bertsche, Astrid, Bettendorf, Ulrich, Ebrahimi-Fakhari, Daniel, Grau, Janina, Hahn, Andreas, Hartmann, Hans, Hertzberg, Christoph, Hornemann, Frauke, Immisch, Ilka, Jacobs, Julia, Klein, Karl Martin, Klotz, Kerstin A., Kluger, Gerhard, Knake, Susanne, Knuf, Markus, Marquard, Klaus, Mayer, Thomas, Meyer, Sascha, Muhle, Hiltrud, Müller-Schlüter, Karen, von Podewils, Felix, Ruf, Susanne, Sauter, Matthias, Schäfer, Hannah, Schlump, Jan-Ulrich, Syrbe, Steffen, Thiels, Charlotte, Trollmann, Regina, Wiemer-Kruel, Adelheid, Wilken, Bernd, Zukunft, Bianca, Strzelczyk, Adam

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