Works matching IS 10597794 AND DT 2011 AND VI 32 AND IP 3


Results: 13
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    Nonsense mutation-associated Becker muscular dystrophy: interplay between exon definition and splicing regulatory elements within the DMD gene.

    Published in:
    Human Mutation, 2011, v. 32, n. 3, p. 299, doi. 10.1002/humu.21426
    By:
    • Flanigan, Kevin M.;
    • Dunn, Diane M.;
    • von Niederhausern, Andrew;
    • Soltanzadeh, Payam;
    • Howard, Michael T.;
    • Sampson, Jacinda B.;
    • Swoboda, Kathryn J.;
    • Bromberg, Mark B.;
    • Mendell, Jerry R.;
    • Taylor, Laura E.;
    • Anderson, Christine B.;
    • Pestronk, Alan;
    • Florence, Julaine M.;
    • Connolly, Anne M.;
    • Mathews, Katherine D.;
    • Wong, Brenda;
    • Finkel, Richard S.;
    • Bonnemann, Carsten G.;
    • Day, John W.;
    • McDonald, Craig
    Publication type:
    Article
    4

    Defining the pathogenicity of creatine deficiency syndrome.

    Published in:
    Human Mutation, 2011, v. 32, n. 3, p. 282, doi. 10.1002/humu.21421
    By:
    • Alcaide, Patricia;
    • Merinero, Begoña;
    • Ruiz-Sala, Pedro;
    • Richard, Eva;
    • Navarrete, Rosa;
    • Arias, Ángela;
    • Ribes, Antonia;
    • Artuch, Rafael;
    • Campistol, Jaume;
    • Ugarte, Magdalena;
    • Rodríguez-Pombo, Pilar
    Publication type:
    Article
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    EMMA, a cost- and time-effective diagnostic method for simultaneous detection of point mutations and large-scale genomic rearrangements: application to BRCA1 and BRCA2 in 1,525 patients.

    Published in:
    Human Mutation, 2011, v. 32, n. 3, p. 325, doi. 10.1002/humu.21414
    By:
    • Caux-Moncoutier, Virginie;
    • Castéra, Laurent;
    • Tirapo, Carole;
    • Michaux, Dorothée;
    • Rémon, Marie-Alice;
    • Laugé, Anthony;
    • Rouleau, Etienne;
    • De Pauw, Antoine;
    • Buecher, Bruno;
    • Gauthier-Villars, Marion;
    • Viovy, Jean-Louis;
    • Stoppa-Lyonnet, Dominique;
    • Houdayer, Claude
    Publication type:
    Article
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    Novel mutations in TTC37 associated with tricho-hepato-enteric syndrome.

    Published in:
    Human Mutation, 2011, v. 32, n. 3, p. 277, doi. 10.1002/humu.21420
    By:
    • Fabre, Alexandre;
    • Martinez-Vinson, Christine;
    • Roquelaure, Bertrand;
    • Missirian, Chantal;
    • André, Nicolas;
    • Breton, Anne;
    • Lachaux, Alain;
    • Odul, Egritas;
    • Colomb, Virginie;
    • Lemale, Julie;
    • Cézard, Jean-Pierre;
    • Goulet, Olivier;
    • Sarles, Jacques;
    • Levy, Nicolas;
    • Badens, Catherine
    Publication type:
    Article
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    11

    Germline gain-of-function mutations of ALK disrupt central nervous system development.

    Published in:
    Human Mutation, 2011, v. 32, n. 3, p. 272, doi. 10.1002/humu.21442
    By:
    • De Pontual, Loïc;
    • Kettaneh, Dania;
    • Gordon, Christopher T.;
    • Oufadem, Myriam;
    • Boddaert, Nathalie;
    • Lees, Melissa;
    • Balu, Laurent;
    • Lachassinne, Eric;
    • Petros, Andy;
    • Mollet, Julie;
    • Wilson, Louise C.;
    • Munnich, Arnold;
    • Brugière, Laurence;
    • Delattre, Olivier;
    • Vekemans, Michel;
    • Etchevers, Heather;
    • Lyonnet, Stanislas;
    • Janoueix-Lerosey, Isabelle;
    • Amiel, Jeanne
    Publication type:
    Article
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