Search Results - Martina Witsch‐Baumgartner

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  1. 1
    Maternal apo E genotype is a modifier of the Smith-Lemli-Opitz syndrome

    Maternal apo E genotype is a modifier of the Smith-Lemli-Opitz syndrome by Martina Witsch‐Baumgartner

    Published 2004
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  2. 2
    EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency

    EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency by Sabina Baumgartner‐Parzer, Martina Witsch‐Baumgartner, Wolfgang Hoeppner

    Published 2020
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  3. 3
    Mutations in the Δ7-sterol reductase gene in patients with the Smith–Lemli–Opitz syndrome

    Mutations in the Δ7-sterol reductase gene in patients with the Smith–Lemli–Opitz syndrome by Barbara U. Fitzky, Martina Witsch‐Baumgartner, Martin Erdel, Joon No Lee, Young‐Ki Paik, Hartmut Glossmann, Gerd Utermann, Fabian F. Moebius

    Published 1998
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  4. 4
    Best practice guidelines and recommendations on the molecular diagnosis of myotonic dystrophy types 1 and 2

    Best practice guidelines and recommendations on the molecular diagnosis of myotonic dystrophy types 1 and 2 by Erik‐Jan Kamsteeg, Wolfram Kreß, Claudio Catalli, Jens Michael Hertz, Martina Witsch‐Baumgartner, Michael F. Buckley, Baziel G.M. van Engelen, Marianne Schwartz, Hans Scheffer

    Published 2012
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  5. 5
    Rac1 as a potential therapeutic target for chemo-radioresistant head and neck squamous cell carcinomas (HNSCC)

    Rac1 as a potential therapeutic target for chemo-radioresistant head and neck squamous cell carcinomas (HNSCC) by Sergej Skvortsov, József Dudás, Paul Eichberger, Martina Witsch‐Baumgartner, Judith Löffler‐Ragg, Christian Pritz, Volker Hans Schartinger, Hans Maier, Jacqueline A. Hall, Paul Debbage, Herbert Riechelmann, P. Lukáš, Ira Skvortsova

    Published 2014
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  6. 6
    Mutational Spectrum in the Δ7-Sterol Reductase Gene and Genotype-Phenotype Correlation in 84 Patients with Smith-Lemli-Opitz Syndrome

    Mutational Spectrum in the Δ7-Sterol Reductase Gene and Genotype-Phenotype Correlation in 84 Patients with Smith-Lemli-Opitz Syndrome by Martina Witsch‐Baumgartner, Barbara U. Fitzky, M. Ogorelkova, H.G. Kraft, Fabian F. Moebius, Hartmut Glossmann, Udo Seedorf, Gabriele Gillessen‐Kaesbach, Georg F. Hoffmann, Peter T. Clayton, Richard I. Kelley, Gerd Utermann

    Published 2000
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  7. 7
    Guidelines for the genetic diagnosis of hereditary recurrent fevers

    Guidelines for the genetic diagnosis of hereditary recurrent fevers by Yael Shinar, Laura Obici, Ivona Aksentijevich, Bruce Bennetts, F Austrup, Isabella Ceccherini, Juliana M Costa, Anne De Leener, Marco Gattorno, U Kania, Isabelle Koné-Paut, S Lezer, Avi Livneh, Isabelle Moix, Ryuta Nishikomori, Seza Özen, Leonidas A. Phylactou, Lotte Risom, DM Rowczenio, Tamara Sarkisian, Mariëlle van Gijn, Martina Witsch‐Baumgartner, Michael A. Morris, H. Hoffman, Isabelle Touitou

    Published 2012
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