檢索結果 - Birgit Krabichler

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  1. 1
    A survey of tools for variant analysis of next-generation genome sequencing data

    A survey of tools for variant analysis of next-generation genome sequencing data 由 Stephan Pabinger, Andreas Dander, M. Fischer, René Snajder, Michael Sperk, Mirjana Efremova, Birgit Krabichler, Michael R. Speicher, Johannes Zschocke, Zlatko Trajanoski

    出版 2013
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  2. 2
    Homozygous SYNE1 mutation causes congenital onset of muscular weakness with distal arthrogryposis: a genotype–phenotype correlation

    Homozygous SYNE1 mutation causes congenital onset of muscular weakness with distal arthrogryposis: a genotype–phenotype correlation 由 Matthias Baumann, Elisabeth Steichen‐Gersdorf, Birgit Krabichler, Britt‐Sabina Petersen, U. Weber, Wolfgang M. Schmidt, Johannes Zschocke, Thomas Müller, Reginald E. Bittner, Andreas Janecke

    出版 2016
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  3. 3
    Loss of Dermatan-4-Sulfotransferase 1 Function Results in Adducted Thumb-Clubfoot Syndrome

    Loss of Dermatan-4-Sulfotransferase 1 Function Results in Adducted Thumb-Clubfoot Syndrome 由 Munis Dündar, Thomas Müller, Qi Zhang, Jing Pan, Beat Steinmann, Julia Vodopiutz, Robert Gruber, Tohru Sonoda, Birgit Krabichler, Gerd Utermann, Jacques Baenziger, Lijuan Zhang, Andreas Janecke

    出版 2009
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  4. 4
    The phenotype of the musculocontractural type of Ehlers‐Danlos syndrome due to <i>CHST14</i> mutations

    The phenotype of the musculocontractural type of Ehlers‐Danlos syndrome due to <i>CHST14</i> mutations 由 Andreas Janecke, Ben Li, Manfred Boehm, Birgit Krabichler, Marianne Rohrbach, Thomas Müller, Irene Fuchs, Gretchen Golas, Yasuhiro Katagiri, Shira G. Ziegler, William A. Gahl, Yael Wilnai, Nicoletta Zoppi, Herbert M. Geller, Cecilia Giunta, Anne Slavotinek, Beat Steinmann

    出版 2015
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  5. 5
    Agenesis of the corpus callosum and gray matter heterotopia in three patients with constitutional mismatch repair deficiency syndrome

    Agenesis of the corpus callosum and gray matter heterotopia in three patients with constitutional mismatch repair deficiency syndrome 由 Annette F. Baas, Michael T. Gabbett, Milan Rimac, Minttu Kansikas, Martine Raphaël, Rutger A. J. Nievelstein, Wayne Nicholls, Johan Offerhaus, Daniëlle Bodmer, Annekatrin Wernstedt, Birgit Krabichler, Ulrich Strasser, Minna Nyström, Johannes Zschocke, Stephen P. Robertson, Mieke M. van Haelst, Katharina Wimmer

    出版 2012
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  6. 6
    MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta

    MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta 由 Uschi Lindert, Wayne A. Cabral, Surasawadee Ausavarat, Siraprapa Tongkobpetch, Katja Ludin, Aileen M. Barnes, Patra Yeetong, MaryAnn Weis, Birgit Krabichler, Chalurmpon Srichomthong, Elena Makareeva, Andreas Janecke, Sergey Leikin, Benno Röthlisberger, Marianne Rohrbach, Ingo Kennerknecht, David R. Eyre, Kanya Suphapeetiporn, Cecilia Giunta, Joan C. Marini, Vorasuk Shotelersuk

    出版 2016
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  7. 7
    Mutations in FKBP14 Cause a Variant of Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis, Myopathy, and Hearing Loss

    Mutations in FKBP14 Cause a Variant of Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis, Myopathy, and Hearing Loss 由 Matthias Baumann, Cecilia Giunta, Birgit Krabichler, Franz Rüschendorf, Nicoletta Zoppi, Marina Colombi, Reginald E. Bittner, Susana Quijano‐Roy, Francesco Muntoni, Sebahattin Çırak, Gudrun Schreiber, Yaqun Zou, Ying Hu, Norma B. Romero, R. Carlier, Albert Amberger, Andrea Deutschmann, Volker Straub, Marianne Rohrbach, Beat Steinmann, Kevin Rostásy, Daniela Karall, C. Bönnemann, Johannes Zschocke, Christine Fauth

    出版 2012
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  8. 8
    Mutations in SPINT2 Cause a Syndromic Form of Congenital Sodium Diarrhea

    Mutations in SPINT2 Cause a Syndromic Form of Congenital Sodium Diarrhea 由 Peter Heinz‐Erian, Thomas Müller, Birgit Krabichler, Melanie Schranz, Christian Becker, Franz Rüschendorf, Peter Nürnberg, Bernard C. Rossier, Mihailo Vujic, I W Booth, Christer Holmberg, Cisca Wijmenga, Giedre Grigelioniené, C. M. F. Kneepkens, Štefan Rosipal, Martin Mistrík, Matthias Kappler, L. Michaud, Ludwig-Christoph Dóczy, Victoria Mok Siu, Marie Krantz, Heinz Zoller, Gerd Utermann, Andreas Janecke

    出版 2009
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  9. 9
    Neu-Laxova Syndrome Is a Heterogeneous Metabolic Disorder Caused by Defects in Enzymes of the L-Serine Biosynthesis Pathway

    Neu-Laxova Syndrome Is a Heterogeneous Metabolic Disorder Caused by Defects in Enzymes of the L-Serine Biosynthesis Pathway 由 Rocío Acuña‐Hidalgo, Denny Schanze, Ariana Kariminejad, Ann Nordgren, Mohamad Hasan Kariminejad, Peter Conner, Giedre Grigelioniené, Daniel Nilsson, Magnus Nordenskjöld, Anna Wedell, Christoph Freyer, Anna Wredenberg, Dagmar Wieczorek, Gabriele Gillessen‐Kaesbach, Hülya Kayserili, Nursel Elçioğlu, Siavash Ghaderi‐Sohi, Payman Goodarzi, Hamidreza Setayesh, Maartje van de Vorst, Marloes Steehouwer, Rolph Pfundt, Birgit Krabichler, Cynthia J. Curry, Malcolm G. MacKenzie, Kym M. Boycott, Christian Gilissen, Andreas Janecke, Alexander Hoischen, Martin Zenker

    出版 2014
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