Found: 2

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  • Prenatal and postnatal presentations of corpus callosum agenesis with polymicrogyria caused by EGP5 mutation.

    Published in:
    American Journal of Medical Genetics. Part A, 2017, v. 173, n. 3, p. 706, doi. 10.1002/ajmg.a.38061
    By:
    • Maillard, Camille;
    • Cavallin, Mara;
    • Piquand, Kevin;
    • Philbert, Marion;
    • Bault, Jean Philippe;
    • Millischer, Anne Elodie;
    • Moshous, Despina;
    • Rio, Marlène;
    • Gitiaux, Cyril;
    • Boddaert, Nathalie;
    • Masson, Cecile;
    • Thomas, Sophie;
    • Bahi‐Buisson, Nadia
    Publication type:
    Article

  • 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