检索结果 - Martina Baethmann

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  1. 1
    eIF2B-Related Disorders: Antenatal Onset and Involvement of Multiple Organs

    eIF2B-Related Disorders: Antenatal Onset and Involvement of Multiple Organs 由 Marjo S. van der Knaap, Carola G.M. van Berkel, Jochen Herms, Rudy Van Coster, Martina Baethmann, Sakkubai Naidu, Eugen Boltshauser, Michèl A.A.P. Willemsen, Barbara Plecko, Georg F. Hoffmann, Christopher G. Proud, Gert C. Scheper, Jan C. Pronk

    出版 2003
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  2. 2
    Childhood Pompe disease: clinical spectrum and genotype in 31 patients

    Childhood Pompe disease: clinical spectrum and genotype in 31 patients 由 Carine I. van Capelle, Jan C. van der Meijden, Johanna M. P. van den Hout, Jaak Jaeken, Martina Baethmann, Thomas Voit, Marian A. Kroos, Terry G. J. Derks, M. Estela Rubio‐Gozalbo, Michèl A.A.P. Willemsen, Robin Lachmann, Eugen Mengel, Helen Michelakakis, J. C. de Jongste, Arnold Reuser, Ans T. van der Ploeg

    出版 2016
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  3. 3
    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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    The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction

    The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction 由 Lisa Lenaerts, Sara Reynhout, Iris Verbinnen, Frédéric Laumonnier, Annick Toutain, Frédérique Bonnet‐Brilhault, Yana Hoorne, Shelagh Joss, Anna Chassevent, Constance Smith‐Hicks, Bart Loeys, Pascal Joset, Katharina Steindl, Anita Rauch, Sarju Mehta, Wendy K. Chung, Koenraad Devriendt, Susan Holder, Tamison Jewett, Lauren M. Baldwin, William G. Wilson, Shelley Towner, Siddharth Srivastava, Hannah Johnson, Cornelia Daumer‐Haas, Martina Baethmann, Anna Ruiz, Elisabeth Gabau, Vani Jain, Vinod Varghese, Ali Said Al-Beshri, Stephen P. Fulton, Oded Wechsberg, Naama Orenstein, Katrina Prescott, Anne-Marie Childs, Laurence Faivre, Sébastien Moutton, Jennifer A. Sullivan, Vandana Shashi, Suzanne M. Koudijs, Malou Heijligers, Emma Kivuva, Amy McTague, Alison Male, Yvette van Ierland, Barbara Plecko, Isabelle Maystadt, Rizwan Hamid, Vickie Hannig, Gunnar Houge, Veerle Janssens

    出版 2020
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