Works matching IS 03406717 AND DT 2008 AND VI 124 AND IP 5


Results: 14
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    Ataxia and pancytopenia caused by a mutation in TINF2.

    Published in:
    Human Genetics, 2008, v. 124, n. 5, p. 507, doi. 10.1007/s00439-008-0576-7
    By:
    • Tsangaris, Elena;
    • Adams, Sally-Lin;
    • Yoon, Grace;
    • Chitayat, David;
    • Lansdorp, Peter;
    • Dokal, Inderjeet;
    • Dror, Yigal
    Publication type:
    Article
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    Association of the GNAS locus with severe malaria.

    Published in:
    Human Genetics, 2008, v. 124, n. 5, p. 499, doi. 10.1007/s00439-008-0575-8
    By:
    • Auburn, Sarah;
    • Diakite, Mahamadou;
    • Fry, Andrew E.;
    • Ghansah, Anita;
    • Campino, Susana;
    • Richardson, Anna;
    • Jallow, Muminatou;
    • Sisay-Joof, Fatou;
    • Pinder, Margaret;
    • Griffiths, Michael J.;
    • Peshu, Norbert;
    • Williams, Thomas N.;
    • Marsh, Kevin;
    • Molyneux, Malcolm E.;
    • Taylor, Terrie E.;
    • Koram, Kwadwo A.;
    • Oduro, Abraham R.;
    • Rogers, William O.;
    • Rockett, Kirk A.;
    • Haldar, Kasturi
    Publication type:
    Article
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    Identification of copy number variants associated with BPES-like phenotypes.

    Published in:
    Human Genetics, 2008, v. 124, n. 5, p. 489, doi. 10.1007/s00439-008-0574-9
    By:
    • Gijsbers, Antoinet C. J.;
    • D'haene, Barbara;
    • Hilhorst-Hofstee, Yvonne;
    • Mannens, Marcel;
    • Albrecht, Beate;
    • Seidel, Joerg;
    • Witt, David R.;
    • Maisenbacher, Melissa K.;
    • Loeys, Bart;
    • van Essen, Ton;
    • Bakker, Egbert;
    • Hennekam, Raoul;
    • Breuning, Martijn H.;
    • De Baere, Elfride;
    • Ruivenkamp, Claudia A. L.
    Publication type:
    Article