Found: 2

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  • The clinical spectrum of complete FBN1 allele deletions.

    Published in:
    European Journal of Human Genetics, 2011, v. 19, n. 3, p. 247, doi. 10.1038/ejhg.2010.174
    By:
    • Hilhorst-Hofstee, Yvonne;
    • Hamel, Ben C. J.;
    • Verheij, Joke B. G. M.;
    • Rijlaarsdam, Marry E. B.;
    • Mancini, Grazia M. S.;
    • Cobben, Jan M.;
    • Giroth, Cindy;
    • Ruivenkamp, Claudia A. L.;
    • Hansson, Kerstin B. M.;
    • Timmermans, Janneke;
    • Moll, Henriette A.;
    • Breuning, Martijn H.;
    • Pals, Gerard
    Publication type:
    Article

  • Ring chromosome formation as a novel escape mechanism in patients with inverted duplication and terminal deletion.

    Published in:
    European Journal of Human Genetics, 2007, v. 15, n. 5, p. 548, doi. 10.1038/sj.ejhg.5201807
    By:
    • Knijnenburg, Jeroen;
    • van Haeringen, Arie;
    • Hansson, Kerstin B M;
    • Lankester, Arjan;
    • Smit, Margot J. M.;
    • Belfroid, René D M;
    • Bakker, Egbert;
    • Rosenberg, Carla;
    • Tanke, Hans J.;
    • Szuhai, Károly
    Publication type:
    Article