Works matching IS 10184813 AND DT 2000 AND VI 8 AND IP 8


Results: 14
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    Two p16 (CDKN2A) germline mutations in 30 Israeli melanoma families.

    Published in:
    European Journal of Human Genetics, 2000, v. 8, n. 8, p. 590, doi. 10.1038/sj.ejhg.5200505
    By:
    • Yakobson, Emanuel;
    • Shemesh, Pnina;
    • Azizi, Esther;
    • Winkler, Eyal;
    • Lassam, Norman;
    • Hogg, David;
    • Brookes, Sharon;
    • Peters, Gordon;
    • Lotem, Michal;
    • Zlotogorski, Abraham;
    • Landau, Marina;
    • Safro, Mark;
    • Shafir, Raphael;
    • Friedman, Eitan;
    • Peretz, Hava
    Publication type:
    Article
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    Spectrum of retGC1 mutations in Leber's congenital amaurosis.

    Published in:
    European Journal of Human Genetics, 2000, v. 8, n. 8, p. 578, doi. 10.1038/sj.ejhg.5200503
    By:
    • Perrault, Isabelle;
    • Rozet, Jean-Michel;
    • Gerber, Sylvie;
    • Ghazi, Imad;
    • Ducroq, Dominique;
    • Souied, Eric;
    • Leowski, Corinne;
    • Bonnemaison, Michèle;
    • Dufier, Jean-Louis;
    • Munnich, Arnold;
    • Kaplan, Josseline
    Publication type:
    Article
    10
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    Stability and haplotype analysis of the FRAXE region.

    Published in:
    European Journal of Human Genetics, 2000, v. 8, n. 8, p. 583, doi. 10.1038/sj.ejhg.5200504
    By:
    • Murray, Anna;
    • Ennis, Sarah;
    • Youings, Sheila A;
    • Sharrock, Andrea J;
    • Lewis, Catherine;
    • Pound, Michelle C;
    • Macpherson, James N;
    • Dennis, Nick R;
    • Morton, Newton E;
    • Jacobs, Patricia A
    Publication type:
    Article
    12

    Identification of genetic heterogeneity in Refsum's disease.

    Published in:
    European Journal of Human Genetics, 2000, v. 8, n. 8, p. 649, doi. 10.1038/sj.ejhg.5200511
    By:
    • Wierzbicki, Anthony S;
    • Mitchell, John;
    • Lambert-Hammill, Michelle;
    • Hancock, Margaret;
    • Greenwood, Juliet;
    • Sidey, Margaret C;
    • de Belleroche, Jacqueline;
    • Gibberd, F Brian
    Publication type:
    Article
    13

    Autosomal dominant type IIa hypercholesterolemia: evaluation of the respective contributions of LDLR and APOB gene defects as well as a third major group of defects.

    Published in:
    European Journal of Human Genetics, 2000, v. 8, n. 8, p. 621, doi. 10.1038/sj.ejhg.5200516
    By:
    • Saint-Jore, Bruno;
    • Varret, Mathilde;
    • Dachet, Christiane;
    • Rabès, Jean-Pierre;
    • Devillers, Martine;
    • Erlich, Danielle;
    • Blanchard, Patricia;
    • Krempf, Michel;
    • Mathé, Denis;
    • Chanu, Bernard;
    • Jacotot, Bernard;
    • Farnier, Michel;
    • Bonaïti-Péllié, Catherine;
    • Junien, Claudine;
    • Boileau, Catherine
    Publication type:
    Article
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