Søgeresultater - Ulrike Reuner

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  1. 1
    Myokymia and neonatal epilepsy caused by a mutation in the voltage sensor of the KCNQ2 K <sup>+</sup> channel

    Myokymia and neonatal epilepsy caused by a mutation in the voltage sensor of the KCNQ2 K <sup>+</sup> channel af Karin Dedek, B Kunath, Colette Kananura, Ulrike Reuner, Thomas J. Jentsch, Ortrud K. Steinlein

    Udgivet 2001
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  2. 2
    Pregnancy in Wilson's disease: Management and outcome

    Pregnancy in Wilson's disease: Management and outcome af Jan Pfeiffenberger, S. Beinhardt, Daniel Gotthardt, Nicola Haag, C Freissmuth, Ulrike Reuner, Annika Gauss, Wolfgang Stremmel, Michael L. Schilsky, Péter Ferenci, Karl Heinz Weiss

    Udgivet 2017
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  3. 3
    Chronic endoplasmic reticulum stress in myotonic dystrophy type 2 promotes autoimmunity via mitochondrial DNA release

    Chronic endoplasmic reticulum stress in myotonic dystrophy type 2 promotes autoimmunity via mitochondrial DNA release af Sarah Rösing, Fabian Ullrich, Susann Meisterfeld, Franziska Schmidt, L. Mlitzko, Marijana Croon, Ryan Nattrass, Nadia Eberl, Julia Mahlberg, Martin Schlee, Anja Wieland, P.K. Simon, Daniel Hilbig, Ulrike Reuner, Alexander Rapp, Julia Bremser, Peter Mirtschink, Stephan Drukewitz, Thomas Zillinger, Stefan Beissert, Katrin Paeschke, Gunther Hartmann, Aleksandra Trifunović, Eva Bartok, Claudia Günther

    Udgivet 2024
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  4. 4
    The clinical, histologic, and genotypic spectrum of <i>SEPN1</i> -related myopathy

    The clinical, histologic, and genotypic spectrum of <i>SEPN1</i> -related myopathy af Rocío N. Villar‐Quiles, Maja von der Hagen, Corinne Métay, Victoria González, Sandra Donkervoort, Enrico Bertini, Claudia Castiglioni, Denys Chaigne, Jaume Colomer, María L. Cuadrado, Marianne de Visser, Isabelle Desguerre, B. Eymard, Nathalie Goemans, Angela M. Kaindl, Emmanuelle Lagrue, Jürg Lütschg, Edoardo Malfatti, M. Mayer, Luciano Merlini, David Orlikowski, Ulrike Reuner, Mustafa A. Salih, Beate Schlotter‐Weigel, Mechthild Stoetter, Volker Straub, Haluk Topaloğlu, J. Andoni Urtizberea, Anneke J. van der Kooi, Ekkehard Wilichowski, Norma B. Romero, Michel Fardeau, Carsten G. Bönnemann, B. Estournet, Pascale Richard, Susana Quijano‐Roy, Ulrike Schara, Ana Ferreiro

    Udgivet 2020
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  5. 5
    Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings

    Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings af Axel Schmidt, Magdalena Danyel, Kathrin Grundmann, Theresa Brunet, Hannah Klinkhammer, Tzung‐Chien Hsieh, Hartmut Engels, Sophia Peters, Alexej Knaus, Shahida Moosa, Luisa Averdunk, Felix Boschann, Henrike L. Sczakiel, Sarina Schwartzmann, Martin A. Mensah, Jean Tori Pantel, Manuel Holtgrewe, Annemarie Bösch, Claudia Weiß, Natalie Weinhold, Aude‐Annick Suter, Corinna Stoltenburg, Julia Neugebauer, Tillmann Kallinich, Angela M. Kaindl, Susanne Holzhauer, Christoph Bührer, Philip Bufler, Uwe Kornak, Claus‐Eric Ott, Markus Schülke, Huu Phuc Nguyen, Sabine Hoffjan, Corinna Grasemann, Tobias Rothoeft, Folke Brinkmann, Nora Matar, Sugirthan Sivalingam, Claudia Perne, Elisabeth Mangold, Martina Kreiß, Kirsten Cremer, Regina C. Betz, Martin Mücke, Lorenz Grigull, Thomas Klockgether, Isabel Spier, André Heimbach, Tim Bender, Fabian Brand, Christiane Stieber, Alexandra Marzena Morawiec, Pantelis Karakostas, Valentin Sebastian Schäfer, Sarah Bernsen, Patrick Weydt, Sergio Castro‐Gomez, Ahmad Aziz, Marcus Grobe‐Einsler, Okka Kimmich, Xenia Kobeleva, Demet Önder, Hellen Lesmann, Sheetal Kumar, Paweł Tacik, Meghna Ahuja Basin, Pietro Incardona, Min Ae Lee‐Kirsch, Reinhard Berner, Catharina Schuetz, Julia Körholz, Tanita Kretschmer, Nataliya Di Donato, Evelin Schröck, A. Heinen, Ulrike Reuner, Amalia-Mihaela Hanßke, Frank J. Kaiser, Eva Manka, Martin Munteanu, Alma Kuechler, Cordula Kiewert, Raphael Hirtz, Elena Schlapakow, Christian Schlein, Jasmin Lisfeld, Christian Kubisch, Theresia Herget, Maja Hempel, Christina Weiler‐Normann, Kurt Ullrich, Christoph Schramm, Cornelia Rudolph, Franziska Rillig, Maximilian Groffmann, Ania C. Muntau, Alexandra Tibelius, Eva Maria Christina Schwaibold, Christian P. Schaaf, Michal Zawada

    Udgivet 2024
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