Works matching IS 10597794 AND DT 2013 AND VI 34 AND IP 11


Results: 19
    1

    Hypomorphic NOTCH3 Alleles Do Not Cause CADASIL in Humans.

    Published in:
    Human Mutation, 2013, v. 34, n. 11, p. 1486, doi. 10.1002/humu.22432
    By:
    • Rutten, Julie W.;
    • Boon, Elles M.J.;
    • Liem, Michael K.;
    • Dauwerse, Johannes G.;
    • Pont, Margot J.;
    • Vollebregt, Ellen;
    • Maat-Kievit, Anneke J.;
    • Ginjaar, Hendrika B.;
    • Lakeman, Phillis;
    • Duinen, Sjoerd G.;
    • Terwindt, Gisela M.;
    • Lesnik Oberstein, Saskia A.J.
    Publication type:
    Article
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    The TREAT- NMD Duchenne Muscular Dystrophy Registries: Conception, Design, and Utilization by Industry and Academia.

    Published in:
    Human Mutation, 2013, v. 34, n. 11, p. 1449, doi. 10.1002/humu.22390
    By:
    • Bladen, Catherine L.;
    • Rafferty, Karen;
    • Straub, Volker;
    • Monges, Soledad;
    • Moresco, Angélica;
    • Dawkins, Hugh;
    • Roy, Anna;
    • Chamova, Teodora;
    • Guergueltcheva, Velina;
    • Korngut, Lawrence;
    • Campbell, Craig;
    • Dai, Yi;
    • Barišić, Nina;
    • Kos, Tea;
    • Brabec, Petr;
    • Rahbek, Jes;
    • Lahdetie, Jaana;
    • Tuffery-Giraud, Sylvie;
    • Claustres, Mireille;
    • Leturcq, France
    Publication type:
    Article
    10

    Coffin- Siris Syndrome and the BAF Complex: Genotype-Phenotype Study in 63 Patients.

    Published in:
    Human Mutation, 2013, v. 34, n. 11, p. 1519, doi. 10.1002/humu.22394
    By:
    • Santen, Gijs W.E.;
    • Aten, Emmelien;
    • Vulto-van Silfhout, Anneke T.;
    • Pottinger, Caroline;
    • Bon, Bregje W.M.;
    • Minderhout, Ivonne J.H.M.;
    • Snowdowne, Ronelle;
    • Lans, Christian A.C.;
    • Boogaard, Merel;
    • Linssen, Margot M.L.;
    • Vijfhuizen, Linda;
    • Wielen, Michiel J.R.;
    • Vollebregt, M.J. (Ellen);
    • Breuning, Martijn H.;
    • Kriek, Marjolein;
    • Haeringen, Arie;
    • den Dunnen, Johan T.;
    • Hoischen, Alexander;
    • Clayton-Smith, Jill;
    • Vries, Bert B.A.
    Publication type:
    Article
    11

    Screening of a Large Cohort of Leber Congenital Amaurosis and Retinitis Pigmentosa Patients Identifies Novel LCA5 Mutations and New Genotype-Phenotype Correlations.

    Published in:
    Human Mutation, 2013, v. 34, n. 11, p. 1537, doi. 10.1002/humu.22398
    By:
    • Mackay, Donna S.;
    • Borman, Arundhati Dev;
    • Sui, Ruifang;
    • Born, L. Ingeborgh;
    • Berson, Eliot L.;
    • Ocaka, Louise A.;
    • Davidson, Alice E.;
    • Heckenlively, John R.;
    • Branham, Kari;
    • Ren, Huanan;
    • Lopez, Irma;
    • Maria, Maleeha;
    • Azam, Maleeha;
    • Henkes, Arjen;
    • Blokland, Ellen;
    • Andreasson, Sten;
    • Baere, Elfride;
    • Bennett, Jean;
    • Chader, Gerald J.;
    • Berger, Wolfgang
    Publication type:
    Article
    12

    MTO1 Mutations are Associated with Hypertrophic Cardiomyopathy and Lactic Acidosis and Cause Respiratory Chain Deficiency in Humans and Yeast.

    Published in:
    Human Mutation, 2013, v. 34, n. 11, p. 1501, doi. 10.1002/humu.22393
    By:
    • Baruffini, Enrico;
    • Dallabona, Cristina;
    • Invernizzi, Federica;
    • Yarham, John W.;
    • Melchionda, Laura;
    • Blakely, Emma L.;
    • Lamantea, Eleonora;
    • Donnini, Claudia;
    • Santra, Saikat;
    • Vijayaraghavan, Suresh;
    • Roper, Helen P.;
    • Burlina, Alberto;
    • Kopajtich, Robert;
    • Walther, Anett;
    • Strom, Tim M.;
    • Haack, Tobias B.;
    • Prokisch, Holger;
    • Taylor, Robert W.;
    • Ferrero, Ileana;
    • Zeviani, Massimo
    Publication type:
    Article
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