Found: 2

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  • A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome.

    Published in:
    Nature Genetics, 2007, v. 39, n. 4, p. 451, doi. 10.1038/ng1992
    By:
    • Risheg, Hiba;
    • Graham Jr., John M.;
    • Clark, Robin D.;
    • Rogers, R. Curtis;
    • Opitz, John M.;
    • Moeschler, John B.;
    • Peiffer, Andreas P.;
    • May, Melanie;
    • Joseph, Sumy M.;
    • Jones, Julie R.;
    • Stevenson, Roger E.;
    • Schwartz, Charles E.;
    • Friez, Michael J.
    Publication type:
    Article

  • Germline mutation rates in young adults predict longevity and reproductive lifespan.

    Published in:
    Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-66867-0
    By:
    • Cawthon, Richard M.;
    • Meeks, Huong D.;
    • Sasani, Thomas A.;
    • Smith, Ken R.;
    • Kerber, Richard A.;
    • O'Brien, Elizabeth;
    • Baird, Lisa;
    • Dixon, Melissa M.;
    • Peiffer, Andreas P.;
    • Leppert, Mark F.;
    • Quinlan, Aaron R.;
    • Jorde, Lynn B.
    Publication type:
    Article