檢索結果 - Birgit Zirn

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  1. 1
    New prognostic markers revealed by evaluation of genes correlated with clinical parameters in Wilms tumors

    New prognostic markers revealed by evaluation of genes correlated with clinical parameters in Wilms tumors 由 Stefanie Wittmann, Christina Wunder, Birgit Zirn, Rhoikos Furtwängler, Jenny Wegert, Norbert Graf, Manfred Gessler

    出版 2008
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  2. 2
    Expression profiling of Wilms tumors reveals new candidate genes for different clinical parameters

    Expression profiling of Wilms tumors reveals new candidate genes for different clinical parameters 由 Birgit Zirn, Oliver Hartmann, Birgit Samans, Michael Krause, Stefanie Wittmann, Fredrik Mertens, Norbert Graf, Martin Eilers, Manfred Gessler

    出版 2005
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  3. 3
    Paternally Inherited<i>IGF2</i>Mutation and Growth Restriction

    Paternally Inherited<i>IGF2</i>Mutation and Growth Restriction 由 Matthias Begemann, Birgit Zirn, Gijs W.E. Santen, Elisa Wirthgen, Lukas Soellner, Hans-Martin Büttel, Roland Schweizer, Wilbert van Workum, Gerhard Binder, Thomas Eggermann

    出版 2015
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  4. 4
    Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study

    Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study 由 Hendrik Rosewich, Hölger Thiele, Andreas Ohlenbusch, Ulrike Maschke, Janine Altmüller, Peter Frommolt, Birgit Zirn, Friedrich Ebinger, H. Siemes, Peter Nürnberg, Knut Brockmann, Jutta Gärtner

    出版 2012
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  5. 5
    Spectrum of novel mutations found in Waardenburg syndrome types 1 and 2: implications for molecular genetic diagnostics

    Spectrum of novel mutations found in Waardenburg syndrome types 1 and 2: implications for molecular genetic diagnostics 由 Gabriele Wildhardt, Birgit Zirn, Luitgard Graul‐Neumann, Juliane Wechtenbruch, M. Suckfüll, Annegret Buske, Axel Bohring, Christian Kubisch, Stefanie Vogt, Gertrud Strobl‐Wildemann, Marie T. Greally, Oliver Bartsch, Daniela Steinberger

    出版 2013
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  6. 6
    <i>MDS1</i> and <i>EVI1</i> complex locus (MECOM): a novel candidate gene for hereditary hematological malignancies

    <i>MDS1</i> and <i>EVI1</i> complex locus (MECOM): a novel candidate gene for hereditary hematological malignancies 由 Tim Ripperger, Winfried Hofmann, Jan Christoph Koch, Katayoon Shirneshan, Detlef Haase, Gerald Wulf, P. R. Issing, Matthias Karnebogen, Gunnar Schmidt, Bernd Auber, Brigitte Schlegelberger, Thomas Illig, Birgit Zirn, Doris Steinemann

    出版 2017
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    Carta
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  7. 7
    Epidemiology of inherited epidermolysis bullosa in Germany

    Epidemiology of inherited epidermolysis bullosa in Germany 由 Cristina Has, Moritz Hess, Waltraud Anemüller, Ulrike Blume‐Peytavi, Steffen Emmert, Regina Fölster‐Holst, Jorge Frank, Kathrin Giehl, Claudia Günther, Johanna Hammersen, Kathrin Hillmann, Bettina Höflein, Peter H. Hoeger, Alrun Hotz, Thuy Anh, Vinzenz Oji, Holm Schneider, Kira Süßmuth, Iliana Tantcheva‐Poór, Frederieke Thielking, Birgit Zirn, Judith Fischer, Antonia Reimer

    出版 2022
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  8. 8
    FOXG1 syndrome: genotype–phenotype association in 83 patients with FOXG1 variants

    FOXG1 syndrome: genotype–phenotype association in 83 patients with FOXG1 variants 由 Diana Mitter, Milka Pringsheim, Marc Kaulisch, Kim Sarah Plümacher, Simone Schröder, Rita Warthemann, Rami Abou Jamra, Martina Baethmann, Thomas Bast, Hans-Martin Büttel, Julie S. Cohen, Elizabeth Conover, Carolina Courage, Angelika Eger, Ali Fatemi, Theresa A. Grebe, Natalie Hauser, Wolfram Heinritz, Katherine L. Helbig, Marion Heruth, Dagmar Huhle, Karen Höft, Stephanie Karch, Gerhard Kluger, Georg Christoph Korenke, Johannes R. Lemke, Richard E. Lutz, Steffi Patzer, Isabelle Prehl, Konstanze Hoertnagel, Keri Ramsey, Tina Rating, Angelika Rieß, Luis Rohena, Mareike Schimmel, Rachel Westman, Frank-Martin Zech, Barbara Zoll, Dörthe Malzahn, Birgit Zirn, Knut Brockmann

    出版 2017
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  9. 9
    <i>ANKRD11</i> variants: <scp>KBG</scp> syndrome and beyond

    <i>ANKRD11</i> variants: <scp>KBG</scp> syndrome and beyond 由 Ilaria Parenti, Mark Mallozzi, Irina Hüning, Cristina Gervasini, Alma Kuechler, Emanuele Agolini, Beate Albrecht, Carolina Baquero‐Montoya, Axel Bohring, Nuria C. Bramswig, Andreas Busche, Andreas Dalski, Yiran Guo, Britta Hanker, Yorck Hellenbroich, Denise Horn, A. Micheil Innes, Chiara Leoni, Leslie A. Lange, Sally Ann Lynch, Milena Mariani, Līvija Medne, Barbara Mikat, Donatella Milani, Roberta Onesimo, Xilma R. Ortiz‐González, Eva Christina Prott, Heiko Reutter, Eva Rossier, Angelo Selicorni, Peter Wieacker, Alisha Wilkens, Dagmar Wieczorek, Elaine H. Zackai, Giuseppe Zampino, Birgit Zirn, Hákon Hákonarson, Matthew A. Deardorff, Gabriele Gillessen‐Kaesbach, Frank J. Kaiser

    出版 2021
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  10. 10
    De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

    De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes 由 Jean-Baptiste Rivière, Ghayda Mirzaa, Brian J. O’Roak, Margaret Beddaoui, Diana Alcantara, Robert L. Conway, Judith St‐Onge, Jeremy Schwartzentruber, Karen W. Gripp, Sarah M. Nikkel, Thea Worthylake, Christopher T. Sullivan, Thomas Ward, Hailly E Butler, Nancy Kramer, Beate Albrecht, Christine M. Armour, Linlea Armstrong, Oana Caluseriu, Cheryl Cytrynbaum, Beth A. Drolet, A. Micheil Innes, Julie Lauzon, Angela E. Lin, Grazia M.S. Mancini, Wendy S. Meschino, James D. Reggin, Anand Saggar, Tally Lerman‐Sagie, Gökhan Uyanık, Rosanna Weksberg, Birgit Zirn, Chandree L. Beaulieu, Jacek Majewski, Dennis E. Bulman, Mark O’Driscoll, Jay Shendure, John M. Graham, Kym M. Boycott, William B. Dobyns

    出版 2012
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