Found: 2

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  • A novel recurrent LIS1 splice site mutation in classic lissencephaly.

    Published in:
    American Journal of Medical Genetics. Part A, 2017, v. 173, n. 2, p. 561, doi. 10.1002/ajmg.a.38041
    By:
    • Philbert, Marion;
    • Maillard, Camille;
    • Cavallin, Mara;
    • Goldenberg, Alice;
    • Masson, Cecile;
    • Boddaert, Nathalie;
    • El Morjani, Adrienne;
    • Steffann, Julie;
    • Chelly, Jamel;
    • Gerard, Xavier;
    • Bahi‐Buisson, Nadia
    Publication type:
    Article

  • Recurrent KIF2A mutations are responsible for classic lissencephaly.

    Published in:
    Neurogenetics, 2017, v. 18, n. 2, p. 73, doi. 10.1007/s10048-016-0499-8
    By:
    • Cavallin, Mara;
    • Bijlsma, Emilia;
    • El Morjani, Adrienne;
    • Moutton, Sébastien;
    • Peeters, Els;
    • Maillard, Camille;
    • Pedespan, Jean;
    • Guerrot, Anne-Marie;
    • Drouin-Garaud, Valérie;
    • Coubes, Christine;
    • Genevieve, David;
    • Bole-Feysot, Christine;
    • Fourrage, Cecile;
    • Steffann, Julie;
    • Bahi-Buisson, Nadia
    Publication type:
    Article