Found: 2

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  • A de novo non-sense mutation in ZBTB18 in a patient with features of the 1q43q44 microdeletion syndrome.

    Published in:
    European Journal of Human Genetics, 2014, v. 22, n. 6, p. 844, doi. 10.1038/ejhg.2013.249
    By:
    • de Munnik, Sonja A;
    • García-Miñaúr, Sixto;
    • Hoischen, Alexander;
    • van Bon, Bregje W;
    • Boycott, Kym M;
    • Schoots, Jeroen;
    • Hoefsloot, Lies H;
    • Knoers, Nine VAM;
    • Bongers, Ernie MHF;
    • Brunner, Han G
    Publication type:
    Article

  • Meier-Gorlin syndrome.

    Published in:
    2015
    By:
    • de Munnik, Sonja A.;
    • Hoefsloot, Elisabeth H.;
    • Roukema, Jolt;
    • Schoots, Jeroen;
    • Knoers, Nine V. A. M.;
    • Brunner, Han G.;
    • Jackson, Andrew P.;
    • Bongers, Ernie M. H. F.;
    • Knoers, Nine Vam;
    • Bongers, Ernie Mhf
    Publication type:
    journal article