Works matching IS 10184813 AND DT 2005 AND VI 13 AND IP 9


Results: 18
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    Paternal deletion of the GNAS imprinted locus (including Gnasxl) in two girls presenting with severe pre- and post-natal growth retardation and intractable feeding difficulties.

    Published in:
    European Journal of Human Genetics, 2005, v. 13, n. 9, p. 1033, doi. 10.1038/sj.ejhg.5201448
    By:
    • Geneviève, David;
    • Sanlaville, Damien;
    • Faivre, Laurence;
    • Kottler, Marie-Laure;
    • Jambou, Marguerite;
    • Gosset, Philippe;
    • Boustani-Samara, Dinane;
    • Pinto, Graziella;
    • Ozilou, Catherine;
    • Abeguilé, Geneviève;
    • Munnich, Arnold;
    • Romana, Serge;
    • Raoul, Odile;
    • Cormier-Daire, Valérie;
    • Vekemans, Michel
    Publication type:
    Article
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    Molecular subtypes and phenotypic expression of Beckwith–Wiedemann syndrome.

    Published in:
    European Journal of Human Genetics, 2005, v. 13, n. 9, p. 1025, doi. 10.1038/sj.ejhg.5201463
    By:
    • Cooper, Wendy N;
    • Luharia, Anita;
    • Evans, Gail A;
    • Raza, Hussain;
    • Haire, Antonita C;
    • Grundy, Richard;
    • Bowdin, Sarah C;
    • Riccio, Andrea;
    • Sebastio, Gianfranco;
    • Bliek, Jet;
    • Schofield, Paul N;
    • Reik, Wolf;
    • Macdonald, Fiona;
    • Maher, Eamonn R
    Publication type:
    Article
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    PINK1, Parkin, and DJ-1 mutations in Italian patients with early-onset parkinsonism.

    Published in:
    European Journal of Human Genetics, 2005, v. 13, n. 9, p. 1086, doi. 10.1038/sj.ejhg.5201455
    By:
    • Klein, Christine;
    • Djarmati, Ana;
    • Hedrich, Katja;
    • Schäfer, Nora;
    • Scaglione, Cesa;
    • Marchese, Roberta;
    • Kock, Norman;
    • Schüle, Birgitt;
    • Hiller, Anja;
    • Lohnau, Thora;
    • Winkler, Susen;
    • Wiegers, Karin;
    • Hering, Robert;
    • Bauer, Peter;
    • Riess, Olaf;
    • Abbruzzese, Giovanni;
    • Martinelli, Paolo;
    • Pramstaller, Peter P.
    Publication type:
    Article
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    Molecular characterisation of patients with subtelomeric 22q abnormalities using chromosome specific array-based comparative genomic hybridisation.

    Published in:
    European Journal of Human Genetics, 2005, v. 13, n. 9, p. 1019, doi. 10.1038/sj.ejhg.5201456
    By:
    • Koolen, David A.;
    • Reardon, William;
    • Rosser, Elisabeth M.;
    • Lacombe, Didier;
    • Hurst, Jane A.;
    • Law, Caroline J.;
    • Bongers, Ernie M. H. F.;
    • van Ravenswaaij-Arts, Conny M.;
    • Leisink, Martijn A. R;
    • van Kessel, Ad Geurts;
    • Veltman, Joris A.;
    • de Vries, Bert B. A
    Publication type:
    Article
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