Výsledky vyhledávání - Stephan Waldmüller

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  1. 1
    Hypertrophic Cardiomyopathy in Noonan Syndrome Treated by MEK-Inhibition

    Hypertrophic Cardiomyopathy in Noonan Syndrome Treated by MEK-Inhibition Autor Grégor Andelfinger, Christopher Marquis, Marie‐Josée Raboisson, Yves Théorêt, Stephan Waldmüller, G. Wiegand, Bruce D. Gelb, Martin Zenker, Marie‐Ange Delrue, Michael Hofbeck

    Vydáno 2019
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  2. 2
    Cardiac Alpha-Myosin (MYH6) Is the Predominant Sarcomeric Disease Gene for Familial Atrial Septal Defects

    Cardiac Alpha-Myosin (MYH6) Is the Predominant Sarcomeric Disease Gene for Familial Atrial Septal Defects Autor Maximilian Posch, Stephan Waldmüller, Melanie Müller, Thomas Scheffold, David Fournier, Miguel A. Andrade‐Navarro, B. De Geeter, Sophie Guillaumont, Claire Dauphin, Dany Yousseff, Katharina Schmitt, Andreas Perrot, Felix Berger, Roland Hetzer, Patrice Bouvagnet, C. Özcelik

    Vydáno 2011
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  3. 3
    Noncompaction of the Ventricular Myocardium Is Associated with a De Novo Mutation in the β-Myosin Heavy Chain Gene

    Noncompaction of the Ventricular Myocardium Is Associated with a De Novo Mutation in the β-Myosin Heavy Chain Gene Autor Birgit Budde, Priska Binner, Stephan Waldmüller, Wolfgang Höhne, Wulf Blankenfeldt, Sabine Haßfeld, Jürgen Brömsen, Anastassia Dermintzoglou, M Wieczorek, Erik May, Elisabeth Kirst, Carmen Selignow, Kirsten Rackebrandt, Melanie Müller, Roger S. Goody, Hans-Peter Vosberg, Peter Nürnberg, Thomas Scheffold

    Vydáno 2007
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  4. 4
    Novel correlations between the genotype and the phenotype of hypertrophic and dilated cardiomyopathy: results from the German Competence Network Heart Failure

    Novel correlations between the genotype and the phenotype of hypertrophic and dilated cardiomyopathy: results from the German Competence Network Heart Failure Autor Stephan Waldmüller, Jeanette Erdmann, Priska Binner, Götz Gelbrich, Sabine Pankuweit, Christian Geier, Bernd Timmermann, Janine Haremza, Andreas Perrot, Steffen Scheer, Rolf Wachter, Norbert Schulze‐Waltrup, Anastassia Dermintzoglou, Jost Schönberger, Wolfgang Zeh, Beate Jurmann, Turgut Brodherr, Jan Börgel, Martin Farr, Hendrik Milting, Wulf Blankenfeldt, Richard Reinhardt, Cemil Özcelik, Karl‐Josef Osterziel, Markus Loeffler, Bernhard Maisch, Vera Regitz‐Zagrosek, Heribert Schunkert, Thomas Scheffold

    Vydáno 2011
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  5. 5
    Bi-allelic loss-of-function variants in<i>KIF21A</i>cause severe fetal akinesia with arthrogryposis multiplex

    Bi-allelic loss-of-function variants in<i>KIF21A</i>cause severe fetal akinesia with arthrogryposis multiplex Autor Ruth Falb, Amelie J. Müller, Wolfram Klein, Mona Grimmel, Ute Grasshoff, Stephanie Spranger, Petra Stöbe, Darja Gauck, Alma Kuechler, Nicola Dikow, Eva Maria Christina Schwaibold, Christoph Q. Schmidt, Luisa Averdunk, Rebecca Buchert, T. Heinrich, Natalia Prodan, Joohyun Park, Martin Kehrer, Marc Sturm, Olga Kelemen, Silke Hartmann, Denise Horn, Dirk Emmerich, Nina Hirt, Armin Neumann, Glen Kristiansen, U. Gembruch, Susanne Haen, Reiner Siebert, Sabine Hentze, Markus Hoopmann, Stephan Ossowski, Stephan Waldmüller, Stefanie Beck‐Wödl, Dieter Gläser, I. Tekesin, Felix Distelmaier, Olaf Rieß, Karl-Oliver Kagan, Andreas Dufke, Tobias B. Haack

    Vydáno 2021
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  6. 6
    Biallelic <i>ADAM22</i> pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy

    Biallelic <i>ADAM22</i> pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy Autor Marieke M van der Knoop, Reza Maroofian, Yuko Fukata, Yvette van Ierland, Ehsan Ghayoor Karimiani, Anna‐Elina Lehesjoki, Mikko Muona, Anders Paetau, Yuri Miyazaki, Yoko Hirano, Laila Selim, Marina de França, Rodrigo Ambrósio Fock, Christian Beetz, Claudia Ruivenkamp, Alison Eaton, Francois D Morneau-Jacob, Lena Sagi‐Dain, Lilach Shemer-Meiri, Amir Peleg, Jumana Haddad‐Halloun, D.J. Kamphuis, Cacha Peeters‐Scholte, Semra Hız Kurul, Rita Horváth, Hanns Lochmüller, David Murphy, Stephan Waldmüller, Stephanie Spranger, David Overberg, Alison M. Muir, Abolfazl Rad, Barbara Vona, Firdous Abdulwahad, Sateesh Maddirevula, Inna Povolotskaya, V. Yu. Voinova, Vykuntaraju K. Gowda, Varunvenkat M. Srinivasan, Fowzan S. Alkuraya, Heather C. Mefford, Majid Alfadhel, Tobias B. Haack, Pasquale Striano, Mariasavina Severino, Masaki Fukata, Yvonne Hilhorst‐Hofstee, Henry Houlden

    Vydáno 2022
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  7. 7
    DLG4-related synaptopathy: a new rare brain disorder

    DLG4-related synaptopathy: a new rare brain disorder Autor Agustí Rodríguez‐Palmero, Melissa M. Boerrigter, David Gómez‐Andrés, Kimberly A. Aldinger, Íñigo Marcos‐Alcalde, Bernt Popp, David B. Everman, Alysia Kern Lovgren, Stéphanie Arpin, Vahid Bahrambeigi, Gea Beunders, Anne‐Marie Bisgaard, Victoria A. Bjerregaard, Ange‐Line Bruel, Thomas D. Challman, Benjamin Cogné, Christine Coubes, de Man, Anne‐Sophie Denommé‐Pichon, Thomas J. Dye, Frances Elmslie, Lars Feuk, Sixto García‐Miñaúr, Tracy S. Gertler, Elisa Giorgio, Nicolas Gruchy, Tobias B. Haack, Chad R. Haldeman‐Englert, Bjørn Ivar Haukanes, Juliane Hoyer, Anna Hurst, Bertrand Isidor, Maria Soller, Sulagna Kushary, Malin Kvarnung, Yuval E. Landau, Kathleen A. Leppig, Anna Lindstrand, Lotte Kleinendorst, Alex MacKenzie, Giorgia Mandrile, Bryce A. Mendelsohn, Setareh Moghadasi, Jenny E.V. Morton, Sébastien Moutton, Amelie J. Müller, Melanie O’Leary, Marta Pacio‐Míguez, María Palomares‐Bralo, Sumit Parikh, Rolph Pfundt, Ben Pode‐Shakked, Anita Rauch, Elena Repnikova, Anya Revah‐Politi, Meredith J. Ross, Claudia Ruivenkamp, Elisabeth Sarrazin, Juliann M. Savatt, Agatha Schlüter, Bitten Schönewolf‐Greulich, Zohra Shad, Charles Shaw‐Smith, Joseph T.C. Shieh, M Shohat, Stephanie Spranger, Heidi Thiese, Frédéric Tran Mau‐Them, Bregje W.M. van Bon, Ineke van de Burgt, Ingrid M.B.H. van de Laar, Esmée van Drie, Mieke M. van Haelst, Conny M.A. van Ravenswaaij‐Arts, Edgard Verdura, Antonio Vitobello, Stephan Waldmüller, Sharon Whiting, Christiane Zweier, Carlos E. Prada, Bert B.A. de Vries, William B. Dobyns, Simone Frizell Reiter, Paulino Gómez‐Puertas, Aurora Pujol, Zeynep Tümer

    Vydáno 2021
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