Search Results - Surowy, Harald Martin

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  1. 1
    Clinical and molecular characterization of the BRCA2 p.Asn3124Ile variant reveals substantial evidence for pathogenic significance

    Clinical and molecular characterization of the BRCA2 p.Asn3124Ile variant reveals substantial evidence for pathogenic significance by Surowy, Harald Martin, Sutter, Christian, Mittnacht, Max, Klaes, Ruediger, Schaefer, Dieter, Evers, Christina, Burgemeister, Anna Lena, Goehringer, Caroline, Dikow, Nicola, Heil, Joerg, Golatta, Michael, Schott, Sarah, Schneeweiss, Andreas, Bugert, Peter, Sohn, Christof, Bartram, Claus Rainer, Burwinkel, Barbara

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  2. 2
    QRICH1 variants in Ververi‐Brady syndrome—delineation of the genotypic and phenotypic spectrum

    QRICH1 variants in Ververi‐Brady syndrome—delineation of the genotypic and phenotypic spectrum by Föhrenbach, Melanie, Jamra, Rami Abou, Borkhardt, Arndt, Brozou, Triantafyllia, Muschke, Petra, Popp, Bernt, Rey, Linda K., Schaper, Jörg, Surowy, Harald, Zenker, Martin, Zweier, Christiane, Wieczorek, Dagmar, Redler, Silke

    Published in Clinical genetics
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  3. 3
    C2orf69 mutations disrupt mitochondrial function and cause a multisystem human disorder with recurring autoinflammation

    C2orf69 mutations disrupt mitochondrial function and cause a multisystem human disorder with recurring autoinflammation by Lausberg, Eva, Gießelmann, Sebastian, Dewulf, Joseph P, Wiame, Elsa, Holz, Anja, Salvarinova, Ramona, van Karnebeek, Clara D, Klemm, Patricia, Ohl, Kim, Mull, Michael, Braunschweig, Till, Weis, Joachim, Sommer, Clemens J, Demuth, Stephanie, Haase, Claudia, Stollbrink-Peschgens, Claudia, Debray, François-Guillaume, Libioulle, Cecile, Choukair, Daniela, Oommen, Prasad T, Borkhardt, Arndt, Surowy, Harald, Wieczorek, Dagmar, Wagner, Norbert, Meyer, Robert, Eggermann, Thomas, Begemann, Matthias, Van Schaftingen, Emile, Häusler, Martin, Tenbrock, Klaus, van den Heuvel, Lambert, Elbracht, Miriam, Kurth, Ingo, Kraft, Florian

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    C2orf69 mutations disrupt mitochondrial function and cause a multisystem human disorder with recurring autoinflammation

    C2orf69 mutations disrupt mitochondrial function and cause a multisystem human disorder with recurring autoinflammation by Lausberg, Eva, Gießelmann, Sebastian, Dewulf, Joseph P, Wiame, Elsa, Holz, Anja, Salvarinova, Ramona, Van karnebeek, Clara D, Klemm, Patricia, Ohl, Kim, Mull, Michael, Braunschweig, Till, Weis, Joachim, Sommer, Clemens J, Demuth, Stephanie, Haase, Claudia, Stollbrink-Peschgens, Claudia, Debray, François-Guillaume, Libioulle, Cecile, Choukair, Daniela, Oommen, Prasad T, Borkhardt, Arndt, Surowy, Harald, Wieczorek, Dagmar, Wagner, Norbert, Meyer, Robert, Eggermann, Thomas, Begemann, Matthias, Van Schaftingen, Emile, Häusler, Martin, Tenbrock, Klaus, van Den Heuvel, Lambert, Elbracht, Miriam, Kurth, Ingo, Kraft, Florian

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