Works matching DE "OROFACIODIGITAL syndromes"


Results: 17
    1

    The role of OFD1 in selective autophagy.

    Published in:
    Molecular & Cellular Oncology, 2021, v. 8, n. 3, p. 1, doi. 10.1080/23723556.2021.1903291
    By:
    • Franco, Brunella;
    • Morleo, Manuela
    Publication type:
    Article
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    C5orf42 is the major gene responsible for OFD syndrome type VI.

    Published in:
    Human Genetics, 2014, v. 133, n. 3, p. 367, doi. 10.1007/s00439-013-1385-1
    By:
    • Lopez, Estelle;
    • Thauvin-Robinet, Christel;
    • Reversade, Bruno;
    • Khartoufi, Nadia;
    • Devisme, Louise;
    • Holder, Muriel;
    • Ansart-Franquet, Hélène;
    • Avila, Magali;
    • Lacombe, Didier;
    • Kleinfinger, Pascale;
    • Kaori, Irahara;
    • Takanashi, Jun-Ichi;
    • Merrer, Martine;
    • Martinovic, Jelena;
    • Noël, Catherine;
    • Shboul, Mohammad;
    • Ho, Lena;
    • Güven, Yeliz;
    • Razavi, Ferechté;
    • Burglen, Lydie
    Publication type:
    Article
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