检索结果 - Barbara Zoll

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  1. 1
    CHARGE and Kabuki syndromes: a phenotypic and molecular link

    CHARGE and Kabuki syndromes: a phenotypic and molecular link 由 Yvonne Schulz, Luisa Freese, Johanna Mänz, Barbara Zoll, Christiane Völter, Knut Brockmann, Nina Bögershausen, Jutta Becker, Bernd Wollnik, Silke Pauli

    出版 2014
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  2. 2
    Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation

    Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation 由 Özge Altug Teber, Gabriele Gillessen‐Kaesbach, Sven Fischer, Stefan Böhringer, Beate Albrecht, Angelika Albert, Mine Arslan‐Kirchner, Eric Haan, M. Hagedorn-Greiwe, Christof Hammans, Wolfram Henn, Georg Klaus Hinkel, Rainer König, Erdmute Kunstmann, Jürgen Kunze, Luitgard M. Neumann, Eva‐Christina Prott, Anita Rauch, Hans‐Dieter Rott, Heide Seidel, Stephanie Spranger, Martin Sprengel, Barbara Zoll, Dietmar Lohmann, Dagmar Wieczorek

    出版 2004
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  3. 3
    High mutation detection rates in cerebral cavernous malformation upon stringent inclusion criteria: one‐third of probands are minors

    High mutation detection rates in cerebral cavernous malformation upon stringent inclusion criteria: one‐third of probands are minors 由 Stefanie Spiegler, Juliane Najm, Jian Liu, Stephanie Gkalympoudis, W. Schröder, Guntram Borck, Knut Brockmann, Miriam Elbracht, Christine Fauth, A. Ferbert, Leonie Freudenberg, Ute Grasshoff, Yorck Hellenbroich, Wolfram Henn, Sabine Hoffjan, Irina Hüning, Georg-Christoph Korenke, Peter M. Kroisel, Erdmute Kunstmann, Martina Mair, Susanne Munk‐Schulenburg, Omid Nikoubashman, Silke Pauli, Sabine Rudnik–Schöneborn, Irene Sudholt, Ulrich Sure, Sigrid Tinschert, Michaela Wiednig, Barbara Zoll, Mark H. Ginsberg, Ute Felbor

    出版 2014
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  4. 4
    Mutation Update for Kabuki Syndrome Genes<i>KMT2D</i>and<i>KDM6A</i>and Further Delineation of X-Linked Kabuki Syndrome Subtype 2

    Mutation Update for Kabuki Syndrome Genes<i>KMT2D</i>and<i>KDM6A</i>and Further Delineation of X-Linked Kabuki Syndrome Subtype 2 由 Nina Bögershausen, Vincent Gâtinois, Vera Riehmer, Hülya Kayserili, Jutta Becker, Michaela Thoenes, Pelin Özlem Şimşek‐Kiper, Mouna Barat‐Houari, Nursel Elçioğlu, Dagmar Wieczorek, Sigrid Tinschert, Guillaume Sarrabay, Tim M. Strom, Aurélie Fabre, Gareth Baynam, Elodie Sanchez, Gudrun Nürnberg, Umut Altunoğlu, Yline Capri, Bertrand Isidor, Didier Lacombe, Carole Corsini, Valérie Cormier‐Daire, Damien Sanlaville, Fabienne Giuliano, Kim‐Hanh Le Quan Sang, Honorine Kayirangwa, Peter Nürnberg, Thomas Meitinger, Koray Boduroğlu, Barbara Zoll, Stanislas Lyonnet, Andreas Tzschach, Alain Verloès, Nataliya Di Donato, Isabelle Touitou, Christian Netzer, Yun Li, David Geneviève, Gökhan Yigit, Bernd Wollnik

    出版 2016
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  5. 5
    FOXG1 syndrome: genotype–phenotype association in 83 patients with FOXG1 variants

    FOXG1 syndrome: genotype–phenotype association in 83 patients with FOXG1 variants 由 Diana Mitter, Milka Pringsheim, Marc Kaulisch, Kim Sarah Plümacher, Simone Schröder, Rita Warthemann, Rami Abou Jamra, Martina Baethmann, Thomas Bast, Hans-Martin Büttel, Julie S. Cohen, Elizabeth Conover, Carolina Courage, Angelika Eger, Ali Fatemi, Theresa A. Grebe, Natalie Hauser, Wolfram Heinritz, Katherine L. Helbig, Marion Heruth, Dagmar Huhle, Karen Höft, Stephanie Karch, Gerhard Kluger, Georg Christoph Korenke, Johannes R. Lemke, Richard E. Lutz, Steffi Patzer, Isabelle Prehl, Konstanze Hoertnagel, Keri Ramsey, Tina Rating, Angelika Rieß, Luis Rohena, Mareike Schimmel, Rachel Westman, Frank-Martin Zech, Barbara Zoll, Dörthe Malzahn, Birgit Zirn, Knut Brockmann

    出版 2017
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