Works matching IS 10184813 AND DT 2009 AND VI 17 AND IP 10


Results: 20
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    Goltz–Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlap.

    Published in:
    European Journal of Human Genetics, 2009, v. 17, n. 10, p. 1207, doi. 10.1038/ejhg.2009.40
    By:
    • Harmsen, May-Britt;
    • Azzarello-Burri, Silvia;
    • García González, M Mar;
    • Gillessen-Kaesbach, Gabriele;
    • Meinecke, Peter;
    • Müller, Dietmar;
    • Rauch, Anita;
    • Rossier, Eva;
    • Seemanova, Eva;
    • Spaich, Christiane;
    • Steiner, Bernhard;
    • Wieczorek, Dagmar;
    • Zenker, Martin;
    • Kutsche, Kerstin
    Publication type:
    Article
    10

    Replication analysis identifies TYK2 as a multiple sclerosis susceptibility factor.

    Published in:
    European Journal of Human Genetics, 2009, v. 17, n. 10, p. 1309, doi. 10.1038/ejhg.2009.41
    By:
    • Ban, Maria;
    • Goris, An;
    • Lorentzen, Åslaug R.;
    • Baker, Amie;
    • Mihalova, Tania;
    • Ingram, Gillian;
    • Booth, David R.;
    • Heard, Robert N.;
    • Stewart, Graeme J.;
    • Bogaert, Elke;
    • Dubois, Bénédicte;
    • Harbo, Hanne F.;
    • Celius, Elisabeth G.;
    • Spurkland, Anne;
    • Strange, Richard;
    • Hawkins, Clive;
    • Robertson, Neil P.;
    • Dudbridge, Frank;
    • Wason, James;
    • De Jager, Philip L.
    Publication type:
    Article
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    BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects.

    Published in:
    European Journal of Human Genetics, 2009, v. 17, n. 10, p. 1325, doi. 10.1038/ejhg.2009.52
    By:
    • Hilton, Emma;
    • Johnston, Jennifer;
    • Whalen, Sandra;
    • Okamoto, Nobuhiko;
    • Hatsukawa, Yoshikazu;
    • Nishio, Juntaro;
    • Kohara, Hiroshi;
    • Hirano, Yoshiko;
    • Mizuno, Seiji;
    • Torii, Chiharu;
    • Kosaki, Kenjiro;
    • Manouvrier, Sylvie;
    • Boute, Odile;
    • Perveen, Rahat;
    • Law, Caroline;
    • Moore, Anthony;
    • Fitzpatrick, David;
    • Lemke, Johannes;
    • Fellmann, Florence;
    • Debray, François-Guillaume
    Publication type:
    Article
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