Resultats de la cerca - Erdmute Kunstmann

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  1. 1
    Free recombination within <i>Helicobacter pylori</i>

    Free recombination within <i>Helicobacter pylori</i> per Sebastian Suerbaum, John Maynard Smith, Khairun Bapumia, Giovanna Morelli, Noel H. Smith, Erdmute Kunstmann, Isabelle Dyrek, Mark Achtman

    Publicat 1998
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  2. 2
    Rare Copy Number Variants Are a Common Cause of Short Stature

    Rare Copy Number Variants Are a Common Cause of Short Stature per Diana Zahnleiter, Steffen Uebe, Arif B. Ekici, Juliane Hoyer, Antje Wiesener, Dagmar Wieczorek, Erdmute Kunstmann, André Reis, Helmuth-Guenther Doerr, Anita Rauch, Christian T. Thiel

    Publicat 2013
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  3. 3
    Novel form of X-linked nonsyndromic hearing loss with cochlear malformation caused by a mutation in the type IV collagen gene COL4A6

    Novel form of X-linked nonsyndromic hearing loss with cochlear malformation caused by a mutation in the type IV collagen gene COL4A6 per Simone Rost, Elisa Bach, Cordula Neuner, Indrajit Nanda, Sandra Dysek, Reginald E. Bittner, Alexander Keller, Oliver Bartsch, Robert Mlynski, Thomas Haaf, Clemens R. Müller, Erdmute Kunstmann

    Publicat 2013
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  4. 4
    Efficacy of anti-sclerostin monoclonal antibody BPS804 in adult patients with hypophosphatasia

    Efficacy of anti-sclerostin monoclonal antibody BPS804 in adult patients with hypophosphatasia per Lothar Seefried, Jasmin Baumann, Sarah Hemsley, Christine Hofmann, Erdmute Kunstmann, Beate Kiese, Yue Huang, Simon Chivers, Marie‐Anne Valentin, Babul Borah, Ronenn Roubenoff, U. Junker, Franz Jakob

    Publicat 2017
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  5. 5
    Microsatellite instability of selective target genes in HNPCC-associated colon adenomas

    Microsatellite instability of selective target genes in HNPCC-associated colon adenomas per Stefan M. Woerner, Matthias Kloor, Annegret Mueller, Josef Rueschoff, Nicolaus Friedrichs, Reinhard Buettner, Moriz Buzello, Peter Kienle, Hanns-Peter Knaebel, Erdmute Kunstmann, Constanze Pagenstecher, Hans K. Schackert, Gabriela Möslein, H. Vogelsang, Magnus von Knebel Doeberitz, Johannes Gebert

    Publicat 2005
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  6. 6
    HNPCC-associated small bowel cancer: Clinical and molecular characteristics

    HNPCC-associated small bowel cancer: Clinical and molecular characteristics per Karsten Schulmann, Frank Brasch, Erdmute Kunstmann, Christoph Engel, Constanze Pagenstecher, H. Vogelsang, Stefan Krüger, Tilman Vogel, Hanns-Peter Knaebel, Josef Rüschoff, Stephan A. Hahn, Magnus von Knebel Doeberitz, Gabriela Möslein, Stephen J. Meltzer, Hans K. Schackert, Christiane Tympner, Elisabeth Mangold, Wolff Schmiegel

    Publicat 2005
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  7. 7
    Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature

    Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature per Nadine Hauer, Bernt Popp, Schoeller Eva, Sarah Schuhmann, Karen E. Heath, Alfonso Hisado-Oliva, Patricia Klinger, Cornelia Kraus, Udo Trautmann, Martin Zenker, Christiane Zweier, Antje Wiesener, Rami Abou Jamra, Erdmute Kunstmann, Dagmar Wieczorek, Steffen Uebe, Fulvia Ferrazzi, Christian Büttner, Arif B. Ekici, Anita Rauch, Heinrich Sticht, Helmuth‐Günther Dörr, André Reis, Christian T. Thiel

    Publicat 2017
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  8. 8
    Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing

    Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing per Nicole Weisschuh, Anja K. Mayer, Tim M. Strom, Susanne Kohl, Nicola Glöckle, Max Schubach, Sten Andréasson, Antje Bernd, David G. Birch, Christian P. Hamel, John R. Heckenlively, Samuel G. Jacobson, C. Kamme, Ulrich Kellner, Erdmute Kunstmann, Pietro Maffei, Charlotte Reiff, Klaus Rohrschneider, Thomas Rosenberg, Günther Rudolph, Rita Vámos, Balázs Varsányi, Richard G. Weleber, Bernd Wissinger

    Publicat 2016
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  9. 9
    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 per 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

    Publicat 2004
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  10. 10
    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 per 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

    Publicat 2014
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  11. 11
    Structural variation in nebulin and its impact on phenotype and inheritance: establishing a dominant distal phenotype caused by large deletions

    Structural variation in nebulin and its impact on phenotype and inheritance: establishing a dominant distal phenotype caused by large deletions per Lydia Sagath, Kirsi Kiiski, K. Satyam Naidu, Krutik Patel, Per Harald Jonson, Milla Laarne, Djurdja Djordjevic, Grace Yoon, Anna LaGroon, Curtis Rogers, Maureen Kelly Galindo, Katalin Scherer, Erdmute Kunstmann, Erkan Koparir, D D Ho, Mark R. Davis, Purwa Joshi, A. Zygmunt, Rotem Orbach, Sandra Donkervoort, C. Bönnemann, Marco Savarese, Andoni Echaniz‐Laguna, Valérie Biancalana, Casie A. Genetti, Susan T. Iannaccone, Alan H. Beggs, Carina Wallgren‐Pettersson, Franclo Henning, Katarina Pelin, Vilma‐Lotta Lehtokari

    Publicat 2025
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  12. 12
    Parkinson’s disease in GTP cyclohydrolase 1 mutation carriers

    Parkinson’s disease in GTP cyclohydrolase 1 mutation carriers per Niccolò E. Mencacci, Ioannis U. Isaias, Martin M. Reich, Christos Ganos, Vincent Plagnol, James M. Polke, José Brás, Joshua Hersheson, María Stamelou, Alan Pittman, Alastair Noyce, Kin Y. Mok, Thomas Opladen, Erdmute Kunstmann, Sybille Hodecker, Alexander Münchau, Jens Volkmann, Samuel Samnick, Katie Sidle, Tina Nanji, Mary G. Sweeney, Henry Houlden, Amit Batla, Anna Zecchinelli, Gianni Pezzoli, Giorgio Marotta, Andrew J. Lees, Paulo Alegria, Paul Krack, Florence Cormier‐Dequaire, Suzanne Lesage, Alexis Brice, Peter Heutink, Thomas Gasser, Steven Lubbe, Huw R. Morris, Pille Taba, Sulev Kõks, Elisa Majounie, J. Raphael Gibbs, Andrew Singleton, John Hardy, Stephan Klebe, Kailash P. Bhatia, Nicholas Wood

    Publicat 2014
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