检索结果 - Isabella Rau

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  1. 1
    Clinical spectrum of females with HCCS mutation: from no clinical signs to a neonatal lethal form of the microphthalmia with linear skin defects (MLS) syndrome

    Clinical spectrum of females with HCCS mutation: from no clinical signs to a neonatal lethal form of the microphthalmia with linear skin defects (MLS) syndrome 由 Vanessa A. van Rahden, Isabella Rau, Sigrid Fuchs, Friederike Katharina Kosyna, Hiram Larangeira de Almeida, Helen Fryssira, Bertrand Isidor, Anna Jauch, Madeleine Joubert, Augusta M.A. Lachmeijer, Christiane Zweier, Ute Moog, Kerstin Kutsche

    出版 2014
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  2. 2
    Nonsense Mutations in FAM161A Cause RP28-Associated Recessive Retinitis Pigmentosa

    Nonsense Mutations in FAM161A Cause RP28-Associated Recessive Retinitis Pigmentosa 由 Thomas Langmann, Silvio Alessandro Di Gioia, Isabella Rau, Heidi Stöhr, Nela Maksimović, Joseph C. Corbo, Agnes B. Renner, Eberhart Zrenner, Govindasamy Kumaramanickavel, Marcus Karlstetter, Yvan Arsenijévic, Bernhard H. F. Weber, Andreas Gal, Carlo Rivolta

    出版 2010
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  3. 3
    Autosomal-Recessive Posterior Microphthalmos Is Caused by Mutations in PRSS56, a Gene Encoding a Trypsin-Like Serine Protease

    Autosomal-Recessive Posterior Microphthalmos Is Caused by Mutations in PRSS56, a Gene Encoding a Trypsin-Like Serine Protease 由 Andreas Gal, Isabella Rau, L. El Matri, Hans‐Jürgen Kreienkamp, Susanne Fehr, K. Baklouti, Ibtissem Chouchane, Yun Li, Monika Rehbein, Josefine Fuchs, Hans C. Fledelius, Kaj Vilhelmsen, Daniel F. Schorderet, Francis L. Munier, Elsebet Østergaard, Debra A. Thompson, Thomas Rosenberg

    出版 2011
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  4. 4
    Nonsense Mutations in SMPX, Encoding a Protein Responsive to Physical Force, Result in X-Chromosomal Hearing Loss

    Nonsense Mutations in SMPX, Encoding a Protein Responsive to Physical Force, Result in X-Chromosomal Hearing Loss 由 Antje K. Huebner, Marta Gandía, Peter Frommolt, A Maak, Eva M. Wicklein, Hölger Thiele, Janine Altmüller, Florian Wagner, Antonio Viñuela, Luis A. Aguirre, Felipe Moreno, H. Maier, Isabella Rau, Sebastian Gießelmann, Gudrun Nürnberg, Andreas Gal, Peter Nürnberg, Christian A. Hübner, Ignacio del Castillo, Ingo Kurth

    出版 2011
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  5. 5
    Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients

    Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients 由 Sina Renner, H. Gregg Schuler, Malik Alawi, Verena Kolbe, Meike Rybczynski, Rixa Woitschach, Sara Sheikhzadeh, V. Stark, J. Olfe, Elke Roser, Friederike Sophia Seggewies, Adrian Mahlmann, Maja Hempel, Melanie J. Hartmann, Mathias Hillebrand, Dagmar Wieczorek, Alexander E. Volk, Katja Kloth, Margarete Koch‐Hogrebe, Rami Abou Jamra, Diana Mitter, Janine Altmüller, Alexandra Wey-Fabrizius, Christine Petersen, Isabella Rau, Guntram Borck, Christian Kubisch, Thomas S. Mir, Yskert Von Kodolitsch, Kerstin Kutsche, Georg Rosenberger

    出版 2019
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