Works matching IS 00099163 AND DT 2013 AND VI 84 AND IP 6


Results: 17
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    MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study.

    Published in:
    Clinical Genetics, 2013, v. 84, n. 6, p. 539, doi. 10.1111/cge.12081
    By:
    • Makrythanasis, P;
    • van Bon, BW;
    • Steehouwer, M;
    • Rodríguez-Santiago, B;
    • Simpson, M;
    • Dias, P;
    • Anderlid, BM;
    • Arts, P;
    • Bhat, M;
    • Augello, B;
    • Biamino, E;
    • Bongers, EMHF;
    • del Campo, M;
    • Cordeiro, I;
    • Cueto-González, AM;
    • Cuscó, I;
    • Deshpande, C;
    • Frysira, E;
    • Izatt, L;
    • Flores, R
    Publication type:
    Article
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    PLP1 gene analysis in 88 patients with leukodystrophy.

    Published in:
    Clinical Genetics, 2013, v. 84, n. 6, p. 566, doi. 10.1111/cge.12103
    By:
    • Martínez-Montero, P;
    • Muñoz-Calero, M;
    • Vallespín, E;
    • Campistol, J;
    • Martorell, L;
    • Ruiz-Falcó, MJ;
    • Santana, A;
    • Pons, R;
    • Dinopoulos, A;
    • Sierra, C;
    • Nevado, J;
    • Molano, J
    Publication type:
    Article
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