Works matching AU Vento, Jodie


Results: 5
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    Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations.

    Published in:
    American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 3, p. 627, doi. 10.1002/ajmg.a.36309
    By:
    • Vanderver, Adeline;
    • Tonduti, Davide;
    • Kahn, Ilana;
    • Schmidt, Johanna;
    • Medne, Livija;
    • Vento, Jodie;
    • Chapman, Kimberly A.;
    • Lanpher, Brendan;
    • Pearl, Phillip;
    • Gropman, Andrea;
    • Lourenco, Charles;
    • Bamforth, John‐Steven;
    • Sharpe, Cynthia;
    • Pineda, Mercédes;
    • Schallner, Jens;
    • Bodamer, Olaf;
    • Orcesi, Simona;
    • Oberstein, Saskia A. J. Lesnik;
    • Sistermans, Erik A.;
    • Yntema, Helger G.
    Publication type:
    Article
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    5

    The mitochondrial solute carrier SLC25A5 at Xq24 is a novel candidate gene for non-syndromic intellectual disability.

    Published in:
    Human Genetics, 2013, v. 132, n. 10, p. 1177, doi. 10.1007/s00439-013-1322-3
    By:
    • Vandewalle, Joke;
    • Bauters, Marijke;
    • Van Esch, Hilde;
    • Belet, Stefanie;
    • Verbeeck, Jelle;
    • Fieremans, Nathalie;
    • Holvoet, Maureen;
    • Vento, Jodie;
    • Spreiz, Ana;
    • Kotzot, Dieter;
    • Haberlandt, Edda;
    • Rosenfeld, Jill;
    • Andrieux, Joris;
    • Delobel, Bruno;
    • Dehouck, Marie-Bertille;
    • Devriendt, Koen;
    • Fryns, Jean-Pierre;
    • Marynen, Peter;
    • Goldstein, Amy;
    • Froyen, Guy
    Publication type:
    Article