Found: 4

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  • ERCC6 founder mutation identified in Finnish patients with COFS syndrome Jaakkola et al.

    Published in:
    Clinical Genetics, 2010, v. 78, n. 6, p. 541, doi. 10.1111/j.1399-0004.2010.01424.x
    By:
    • Jaakkola, Elisa;
    • Mustonen, A.;
    • Olsen, P.;
    • Miettinen, S.;
    • Savuoja, T.;
    • Raams, A.;
    • Jaspers, N. G. J.;
    • Shao, H.;
    • Wu, B. L.;
    • Ignatius, J.
    Publication type:
    Article

  • Predominance of Null Mutations in Ataxia-Telangiectasia.

    Published in:
    Human Molecular Genetics, 1996, v. 5, n. 4, p. 433, doi. 10.1093/hmg/5.4.433
    By:
    • Gilad, Shlomit;
    • Khosravi, Rami;
    • Shkedy, Dganit;
    • Uziel, Tamar;
    • Ziv, Yael;
    • Savitsky, Kinneret;
    • Rotman, Galit;
    • Smith, Sara;
    • Chessa, Luciana;
    • Jorgensen, Timothy J.;
    • Harnik, Reli;
    • Frydman, Moshe;
    • Sanal, Ozden;
    • Portnoi, Sima;
    • Goldwicz, Zipora;
    • Jaspers, N. G. J.;
    • Gatti, Richard A.;
    • Lenoir, Gilbert;
    • Lavin, Martin F.;
    • Tatsumi, Kouichi
    Publication type:
    Article

  • AT-related disorder.

    Published in:
    Clinical Genetics, 1988, v. 33, n. 1, p. 20, doi. 10.1111/j.1399-0004.1988.tb04260.x
    By:
    • Wegner, R.-D.;
    • Metzger, M.;
    • Hanefeld, F.;
    • Jaspers, N. G. J.;
    • Baan, C.;
    • Magdorf, K.;
    • Kunze, J.;
    • Sperling, K.
    Publication type:
    Article

  • Prenatal diagnosis of xeroderma pigmentosum (group C) using assays of unscheduled DNA synthesis and postreplication repair.

    Published in:
    Clinical Genetics, 1979, v. 16, n. 3, p. 137, doi. 10.1111/j.1399-0004.1979.tb00982.x
    By:
    • Halley, D. J. J.;
    • Keijzer, W.;
    • Jaspers, N. G. J.;
    • Niermeuer, M. F.;
    • Rleijer, W. J.;
    • Boué, J.;
    • Boué, A.;
    • Bootsma, D.
    Publication type:
    Article