Found: 3

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  • Dominant missense mutations in ABCC9 cause Cantú syndrome.

    Published in:
    Nature Genetics, 2012, v. 44, n. 7, p. 793, doi. 10.1038/ng.2324
    By:
    • Harakalova, Magdalena;
    • van Harssel, Jeske J T;
    • Terhal, Paulien A;
    • van Lieshout, Stef;
    • Duran, Karen;
    • Renkens, Ivo;
    • Amor, David J;
    • Wilson, Louise C;
    • Kirk, Edwin P;
    • Turner, Claire L S;
    • Shears, Debbie;
    • Garcia-Minaur, Sixto;
    • Lees, Melissa M;
    • Ross, Alison;
    • Venselaar, Hanka;
    • Vriend, Gert;
    • Takanari, Hiroki;
    • Rook, Martin B;
    • van der Heyden, Marcel A G;
    • Asselbergs, Folkert W
    Publication type:
    Article

  • Duplications of noncoding elements 5′ of SOX9 are associated with brachydactyly-anonychia.

    Published in:
    2009
    By:
    • Kurth, Ingo;
    • Klopocki, Eva;
    • Stricker, Sigmar;
    • van Oosterwijk, Jolieke;
    • Vanek, Sebastian;
    • Altmann, Jens;
    • Santos, Heliosa G.;
    • van Harssel, Jeske J. T.;
    • de Ravel, Thomy;
    • Wilkie, Andrew O. M.;
    • Gal, Andreas;
    • Mundlos, Stefan
    Publication type:
    Letter

  • Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2763, doi. 10.1002/ajmg.a.38375
    By:
    • Telegrafi, Aida;
    • Webb, Bryn D.;
    • Robbins, Sarah M.;
    • Speck‐Martins, Carlos E.;
    • FitzPatrick, David;
    • Fleming, Leah;
    • Redett, Richard;
    • Dufke, Andreas;
    • Houge, Gunnar;
    • van Harssel, Jeske J. T.;
    • Verloes, Alain;
    • Robles, Angela;
    • Manoli, Irini;
    • Engle, Elizabeth C.;
    • Jabs, Ethylin W.;
    • Valle, David;
    • Carey, John;
    • Hoover‐Fong, Julie E.;
    • Sobreira, Nara L. M.
    Publication type:
    Article