Результати пошуку - Ruth Falb

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  1. 1
    Diagnostic genome sequencing improves diagnostic yield: a prospective single-centre study in 1000 patients with inherited eye diseases

    Diagnostic genome sequencing improves diagnostic yield: a prospective single-centre study in 1000 patients with inherited eye diseases за авторством Nicole Weisschuh, Pascale Mazzola, Theresia Zuleger, Karin Schaeferhoff, Laura Kühlewein, Friederike Kortüm, Dennis Witt, Alexandra Liebmann, Ruth Falb, Lisa Pohl, Milda Reith, Lara G. Stühn, Miriam Bertrand, Amelie J. Müller, Nicolas Casadei, Olga Kelemen, Carina Kelbsch, Christoph Kernstock, Paul Richter, Françoise Sadler, German Demidov, Leon Schütz, Jakob Admard, Marc Sturm, Ute Grasshoff, Felix Tonagel, T. Heinrich, Fadi Nasser, Bernd Wissinger, Stephan Ossowski, Susanne Kohl, Olaf Rieß, Katarína Štingl, Tobias B. Haack

    Опубліковано 2023
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    Artigo
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  2. 2
    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 за авторством 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

    Опубліковано 2021
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    Artigo
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  3. 3
    ZSCAN10 deficiency causes a neurodevelopmental disorder with characteristic oto-facial malformations

    ZSCAN10 deficiency causes a neurodevelopmental disorder with characteristic oto-facial malformations за авторством Lucia Laugwitz, Fubo Cheng, Stephan C. Collins, Alexander Hustinx, Nicolas Navarro, Simon Welsch, Helen Cox, Tzung‐Chien Hsieh, Aswinkumar Vijayananth, Rebecca Buchert, Benjamin Bender, Stéphanie Efthymiou, David Murphy, Faisal Zafar, Nuzhat Rana, Ute Grasshoff, Ruth Falb, Mona Grimmel, Annette Seibt, Wenxu Zheng, Hamid Ghaedi, Marie Thirion, Sébastien Couette, Reza Azizi Malamiri, Saeid Sadeghian, Hamid Galehdari, Mina Zamani, Jawaher Zeighami, Alireza Sedaghat, Samira Molaei Ramshe, A Ghamari Zare, Behnam Alipoor, Dirk Klee, Marc Sturm, Stephan Ossowski, Henry Houlden, Olaf Rieß, Dagmar Wieczorek, Ryan Gavin, Reza Maroofian, Peter Krawitz, Binnaz Yalcin, Felix Distelmaier, Tobias B. Haack

    Опубліковано 2024
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    Artigo
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  4. 4
    The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder

    The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder за авторством Dmitrijs Rots, Taryn E. Jakub, Crystal Keung, Adam Jackson, Siddharth Banka, Rolph Pfundt, Bert B.A. de Vries, Richard H. van Jaarsveld, Saskia Hopman, Ellen van Binsbergen, Irene Valenzuela, Maja Hempel, Tatjana Bierhals, Fanny Kortüm, François Lecoquierre, Alice Goldenberg, Jens Michael Hertz, Charlotte Brasch Andersen, Maria Kibæk, Eloise J. Prijoles, Roger E. Stevenson, David B. Everman, Wesley G. Patterson, Linyan Meng, Charul Gijavanekar, Karl De Dios, Shenela Lakhani, Tess Levy, Matias Wagner, Dagmar Wieczorek, Paul J. Benke, María Soledad Lopez Garcia, Renée Perrier, Sérgio B. Sousa, Pedro Almeida, Maria José Simões, Bertrand Isidor, Wallid Deb, Andrew A. Schmanski, Omar Abdul‐Rahman, Christophe Philippe, Ange‐Line Bruel, Laurence Faivre, Antonio Vitobello, Christel Thauvin, Jeroen J. Smits, Livia Garavelli, Stefano Giuseppe Caraffi, Francesca Peluso, Laura Davis‐Keppen, Dylan Platt, Erin Royer, Lisette Leeuwen, Margje Sinnema, Alexander P.A. Stegmann, Constance T. R. M. Stumpel, George E. Tiller, Daniëlle G.M. Bosch, Stephanus T. Potgieter, Shelagh Joss, Miranda Splitt, Simon Holden, Matina Prapa, Nicola Foulds, Sofia Douzgou, Kaija Puura, Regina Waltes, Andreas G. Chiocchetti, Christine M. Freitag, F. Kyle Satterstrom, Silvia De Rubeis, Joseph D. Buxbaum, Bruce D. Gelb, Branko Aleksić, Itaru Kushima, Jennifer Howe, Stephen W. Scherer, Alessia Arado, Chiara Baldo, Olivier Patat, Demeer Bénédicte, Diego Lopergolo, Filippo M. Santorelli, Tobias B. Haack, Andreas Dufke, Miriam Bertrand, Ruth Falb, Angelika Rieß, Peter Krieg, Stephanie Spranger, Maria Francesca Bedeschi, Maria Iascone, Sarah Josephi‐Taylor, Tony Roscioli, Michael F. Buckley, Jan Liebelt, Aditi I Dagli, Emmelien Aten, Anna Hurst, Alesha Hicks

    Опубліковано 2023
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    Artigo
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