Resultados de procura - Judith Phalin

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  1. 1
    Identification of familial and de novo microduplications of 22q11.21-q11.23 distal to the 22q11.21 microdeletion syndrome region

    Identification of familial and de novo microduplications of 22q11.21-q11.23 distal to the 22q11.21 microdeletion syndrome region por Justine Coppinger, Donna M. McDonald‐McGinn, E. Zackai, Kate Shane-Carson, Joan Atkin, Alexander Asamoah, R. Leland, David D. Weaver, Susan Lansky-Shafer, Karen Schmidt, Heidi M. Feldman, William Cohen, Judith Phalin, Berkley R. Powell, B. C. Ballif, Aaron Theisen, Elizabeth A. Geiger, Chad R. Haldeman‐Englert, Tamim H. Shaikh, Sulagna C. Saitta, B.A. Bejjani, L.G. Shaffer

    Publicado 2009
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  2. 2
    <i>STXBP1</i> encephalopathy

    <i>STXBP1</i> encephalopathy por Hannah Stamberger, Marina Nikanorova, Marjolein H. Willemsen, Patrizia Accorsi, Marco Angriman, Hartmut Baier, Ira Benkel-Herrenbrueck, Valérie Benoît, M Budetta, Almuth Caliebe, Gaetano Cantalupo, Giuseppe Capovilla, Gianluca Casara, Carolina Courage, Marie Deprez, Anne Destrèe, Robertino Dilena, Corrie E. Erasmus, Madeleine Fannemel, Roar Fjær, Lucio Giordano, Katherine L. Helbig, Henrike Heyne, Joerg Klepper, Gerhard Kluger, Damien Lederer, Monica Lodi, Oliver Maier, Andreas Merkenschlager, Nina Michelberger, Carlo Minetti, Hiltrud Muhle, Judith Phalin, Keri Ramsey, Antonino Romeo, Jens Schallner, Ina Schanze, Marwan Shinawi, Kristel Sleegers, Katalin Štěrbová, Steffen Syrbe, Monica Traverso, Andreas Tzschach, Peter Uldall, Rudy Van Coster, Hélène Verhelst, Maurizio Viri, Susan Winter, Markus Wolff, Martin Zenker, Leonardo Zoccante, Peter De Jonghe, Ingo Helbig, Pasquale Striano, Johannes R. Lemke, Rikke S. Møller, Sarah Weckhuysen

    Publicado 2016
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