Works matching IS 03406717 AND DT 2014 AND VI 133 AND IP 7


Results: 10
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    Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations.

    Published in:
    Human Genetics, 2014, v. 133, n. 7, p. 939, doi. 10.1007/s00439-014-1436-2
    By:
    • Basel-Vanagaite, Lina;
    • Yilmaz, Rüstem;
    • Tang, Sha;
    • Reuter, Miriam;
    • Rahner, Nils;
    • Grange, Dorothy;
    • Mortenson, Megan;
    • Koty, Patrick;
    • Feenstra, Heather;
    • Farwell Gonzalez, Kelly;
    • Sticht, Heinrich;
    • Boddaert, Nathalie;
    • Désir, Julie;
    • Anyane-Yeboa, Kwame;
    • Zweier, Christiane;
    • Reis, André;
    • Kubisch, Christian;
    • Jewett, Tamison;
    • Zeng, Wenqi;
    • Borck, Guntram
    Publication type:
    Article
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