Found: 4

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  • Skin abnormalities in individuals with macrocephaly: Cowden disease from a dermatologist's point of view.

    Published in:
    International Journal of Dermatology, 2008, v. 47, p. 45, doi. 10.1111/j.1365-4632.2008.03960.x
    By:
    • van der Velden, Jaap J. A. J.;
    • Vreeburg, Maaike;
    • Smeets, Eric E. J.;
    • Schrander-Stumpel, Constance T. R. M.;
    • van Steensel, Maurice A. M.
    Publication type:
    Article

  • Different distribution of the genetic subtypes of the Prader–Willi syndrome in the elderly.

    Published in:
    European Journal of Human Genetics, 2010, v. 18, n. 9, p. 993, doi. 10.1038/ejhg.2010.67
    By:
    • Sinnema, Margje;
    • van Roozendaal, Kees E. P.;
    • Maaskant, Marian A.;
    • Smeets, Hubert J. M.;
    • Engelen, John J. M.;
    • Jonker-Houben, Nieke;
    • Schrander-Stumpel, Constance T. R. M.;
    • Curfs, Leopold M. G.
    Publication type:
    Article

  • The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes.

    Published in:
    European Journal of Human Genetics, 2010, v. 18, n. 9, p. 999, doi. 10.1038/ejhg.2010.70
    By:
    • Paulussen, Aimée D. C.;
    • Schrander-Stumpel, Constance T.;
    • Tserpelis, Demis C. J.;
    • Spee, Matteus K. M.;
    • Stegmann, Alexander P. A.;
    • Mancini, Grazia M.;
    • Brooks, Alice S.;
    • Collée, Margriet;
    • Maat-Kievit, Anneke;
    • Simon, Marleen E. H.;
    • van Bever, Yolande;
    • Stolte-Dijkstra, Irene;
    • Kerstjens-Frederikse, Wilhelmina S.;
    • Herkert, Johanna C.;
    • van Essen, Anthonie J.;
    • Lichtenbelt, Klaske D.;
    • van Haeringen, Arie;
    • Kwee, Mei L.;
    • Lachmeijer, Augusta M. A.;
    • Tan-Sindhunata, Gita M. B.
    Publication type:
    Article

  • Triple X syndrome: a review of the literature.

    Published in:
    European Journal of Human Genetics, 2010, v. 18, n. 3, p. 265, doi. 10.1038/ejhg.2009.109
    By:
    • Otter, Maarten;
    • Schrander-Stumpel, Constance T. R. M.;
    • Curfs, Leopold M. G.
    Publication type:
    Article