Torthaí cuardaigh - Heide Seidel

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  1. 1
    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 de réir 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

    Foilsithe / Cruthaithe 2004
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  2. 2
    SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome

    SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome de réir Martin Zenker, Denise Horn, Dagmar Wieczorek, Judith Allanson, Silke Pauli, I. van der Bürgt, H. G. Doerr, H. Gaspar, Michael Hofbeck, Gabriele Gillessen‐Kaesbach, Andreas Koch, Peter Meinecke, Stefan Mundlos, Anja Nowka, Anita Rauch, Shimon Reif, Christian von Schnakenburg, Heide Seidel, Lore Wehner, Christiane Zweier, Susanne Bauhuber, Verena Matejas, Christian P. Kratz, Christoph Thomas, Kerstin Kutsche

    Foilsithe / Cruthaithe 2007
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  3. 3
    Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation

    Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation de réir Karim Kouz, Christina Lißewski, Stephanie Spranger, Diana Mitter, Angelika Rieß, Vanesa López‐González, Sabine Lüttgen, Hatip Aydın, Florian von Deimling, Christina Evers, Andreas Hahn, Maja Hempel, Ulrike Issa, Anne‐Karin Kahlert, A. Lieb, Pablo Villavicencio‐Lorini, María Juliana Ballesta‐Martínez, Sheela Nampoothiri, Angela Ovens‐Raeder, Alena Puchmajerová, Robin Satanovskij, Heide Seidel, Stephan Unkelbach, Bernhard Zabel, Kerstin Kutsche, Martin Zenker

    Foilsithe / Cruthaithe 2016
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