Found: 3

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  • Germline gain-of-function mutations in SOS1 cause Noonan syndrome.

    Published in:
    Nature Genetics, 2007, v. 39, n. 1, p. 70, doi. 10.1038/ng1926
    By:
    • Roberts, Amy E.;
    • Araki, Toshiyuki;
    • Swanson, Kenneth D.;
    • Montgomery, Kate T.;
    • Schiripo, Taryn A.;
    • Joshi, Victoria A.;
    • Li, Li;
    • Yassin, Yosuf;
    • Tamburino, Alex M.;
    • Neel, Benjamin G.;
    • Kucherlapati, Raju S.
    Publication type:
    Article

  • A high-resolution map of human chromosome 12.

    Published in:
    Nature, 2001, v. 409, n. 6822, p. 945, doi. 10.1038/35057174
    By:
    • Montgomery, Kate T.;
    • Lee, Eunice;
    • Miller, Ashley;
    • Lau, Stephanie;
    • Shim, Cecilia;
    • Decker, Jeremy;
    • Chiu, Denise;
    • Emerling, Suzanne;
    • Sekhon, Mandeep;
    • Kim, Rachel;
    • Lenz, Jack;
    • Han, Jinghua;
    • Ioshikhes, Ilya;
    • Renault, Beatrice;
    • Marondel, Ivonne;
    • Yoon, Sung-Joo Kim;
    • Song, Kyuyoung;
    • Murty, V.V.V.S.;
    • Scherer, Steven;
    • Yonescu, Raluca
    Publication type:
    Article

  • Mutations in KERA, encoding keratocan, cause cornea plana.

    Published in:
    Nature Genetics, 2000, v. 25, n. 1, p. 91, doi. 10.1038/75664
    By:
    • Pellegata, Natalia S.;
    • Dieguez-Lucena, Jose L.;
    • Joensuu, Tarja;
    • Lau, Stephanie;
    • Montgomery, Kate T.;
    • Krahe, Ralf;
    • Kivelä, Tero;
    • Kucherlapati, Raju;
    • Forsius, Henrik;
    • de la Chapelle, Albert
    Publication type:
    Article