Works matching IS 10184813 AND DT 2013 AND VI 21 AND IP 10

Results: 33
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    Clinical utility gene card for: Dilated Cardiomyopathy (CMD).

    Published in:
    European Journal of Human Genetics, 2013, v. 21, n. 10, p. 1, doi. 10.1038/ejhg.2012.276
    By:
    • Posafalvi, Anna;
    • Herkert, Johanna C;
    • Sinke, Richard J;
    • van den Berg, Maarten P;
    • Mogensen, Jens;
    • Jongbloed, Jan D H;
    • van Tintelen, J Peter
    Publication type:
    Article
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    The personal experience of parenting a child with Juvenile Huntington's Disease: perceptions across Europe.

    Published in:
    European Journal of Human Genetics, 2013, v. 21, n. 10, p. 1042, doi. 10.1038/ejhg.2013.15
    By:
    • Eatough, Virginia;
    • Santini, Helen;
    • Eiser, Christine;
    • Goller, Marie-Louise;
    • Krysa, Wioletta;
    • de Nicola, 'Annunziata';
    • Paduanello, Matteo;
    • Petrollini, Martina;
    • Rakowicz, Maria;
    • Squitieri, Ferdinando;
    • Tibben, Aad;
    • Lee Weille, Katie;
    • Landwehrmeyer, Bernhard;
    • Quarrell, Oliver;
    • Smith, Jonathan A
    Publication type:
    Article
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    Phenotypic spectrum and prevalence of INPP5E mutations in Joubert Syndrome and related disorders.

    Published in:
    European Journal of Human Genetics, 2013, v. 21, n. 10, p. 1074, doi. 10.1038/ejhg.2012.305
    By:
    • Travaglini, Lorena;
    • Brancati, Francesco;
    • Silhavy, Jennifer;
    • Iannicelli, Miriam;
    • Nickerson, Elizabeth;
    • Elkhartoufi, Nadia;
    • Scott, Eric;
    • Spencer, Emily;
    • Gabriel, Stacey;
    • Thomas, Sophie;
    • Ben-Zeev, Bruria;
    • Bertini, Enrico;
    • Boltshauser, Eugen;
    • Chaouch, Malika;
    • Roberta Cilio, Maria;
    • de Jong, Mirjam M;
    • Kayserili, Hulya;
    • Ogur, Gonul;
    • Poretti, Andrea;
    • Signorini, Sabrina
    Publication type:
    Article
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    HLA-DQB1*02 and DQB1*06:03P are associated with peanut allergy.

    Published in:
    European Journal of Human Genetics, 2013, v. 21, n. 10, p. 1181, doi. 10.1038/ejhg.2013.13
    By:
    • Madore, Anne-Marie;
    • Vaillancourt, Vanessa T;
    • Asai, Yuka;
    • Alizadehfar, Reza;
    • Ben-Shoshan, Moshe;
    • Michel, Deborah L;
    • Kozyrskyj, Anita L;
    • Becker, Allan;
    • Chan-Yeung, Moira;
    • Clarke, Ann E;
    • Hull, Peter;
    • Daley, Denise;
    • Sandford, Andrew J;
    • Laprise, Catherine
    Publication type:
    Article
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    Molecular and clinical delineation of the 17q22 microdeletion phenotype.

    Published in:
    European Journal of Human Genetics, 2013, v. 21, n. 10, p. 1085, doi. 10.1038/ejhg.2012.306
    By:
    • Laurell, Tobias;
    • Lundin, Johanna;
    • Anderlid, Britt-Marie;
    • Gorski, Jerome L;
    • Grigelioniene, Giedre;
    • Knight, Samantha J L;
    • Krepischi, Ana C V;
    • Nordenskjöld, Agneta;
    • Price, Susan M;
    • Rosenberg, Carla;
    • Turnpenny, Peter D;
    • Vianna-Morgante, Angela M;
    • Nordgren, Ann
    Publication type:
    Article
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    Functional and genetic characterization of two extremely rare cases of Williams-Beuren Syndrome associated with chronic granulomatous disease.

    Published in:
    European Journal of Human Genetics, 2013, v. 21, n. 10, p. 1079, doi. 10.1038/ejhg.2012.310
    By:
    • Stasia, Marie J;
    • Mollin, Michèle;
    • Martel, Cécile;
    • Satre, Véronique;
    • Coutton, Charles;
    • Amblard, Florence;
    • Vieville, Gaëlle;
    • van Montfrans, Joris M;
    • Boelens, Jaap J;
    • Veenstra-Knol, Hermine E;
    • van Leeuwen, Karen;
    • de Boer, Martin;
    • Brion, Jean-Paul;
    • Roos, Dirk
    Publication type:
    Article
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    Meta-analysis of telomere length in 19 713 subjects reveals high heritability, stronger maternal inheritance and a paternal age effect.

    Published in:
    European Journal of Human Genetics, 2013, v. 21, n. 10, p. 1163, doi. 10.1038/ejhg.2012.303
    By:
    • Broer, Linda;
    • Codd, Veryan;
    • Nyholt, Dale R;
    • Deelen, Joris;
    • Mangino, Massimo;
    • Willemsen, Gonneke;
    • Albrecht, Eva;
    • Amin, Najaf;
    • Beekman, Marian;
    • de Geus, Eco J C;
    • Henders, Anjali;
    • Nelson, Christopher P;
    • Steves, Claire J;
    • Wright, Margie J;
    • de Craen, Anton J M;
    • Isaacs, Aaron;
    • Matthews, Mary;
    • Moayyeri, Alireza;
    • Montgomery, Grant W;
    • Oostra, Ben A
    Publication type:
    Article
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