Works matching AU Williams, Simon


Results: 431
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    ORAI1 Mutations with Distinct Channel Gating Defects in Tubular Aggregate Myopathy.

    Published in:
    Human Mutation, 2017, v. 38, n. 4, p. 426, doi. 10.1002/humu.23172
    By:
    • Böhm, Johann;
    • Bulla, Monica;
    • Urquhart, Jill E.;
    • Malfatti, Edoardo;
    • Williams, Simon G.;
    • O'Sullivan, James;
    • Szlauer, Anastazja;
    • Koch, Catherine;
    • Baranello, Giovanni;
    • Mora, Marina;
    • Ripolone, Michela;
    • Violano, Raffaella;
    • Moggio, Maurizio;
    • Kingston, Helen;
    • Dawson, Timothy;
    • DeGoede, Christian G.;
    • Nixon, John;
    • Boland, Anne;
    • Deleuze, Jean‐François;
    • Romero, Norma
    Publication type:
    Article
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    Sensory analysis.

    Published in:
    International Journal of Food Science & Technology, 1998, v. 33, n. 1, p. 7, doi. 10.1046/j.1365-2621.1998.00154.x
    By:
    • Piggott, John R.;
    • Simpson, Stephanie J.;
    • Williams, Simon A. R.
    Publication type:
    Article
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    Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome.

    Published in:
    Nature Genetics, 2013, v. 45, n. 5, p. 556, doi. 10.1038/ng.2602
    By:
    • McDonell, Laura M;
    • Mirzaa, Ghayda M;
    • Alcantara, Diana;
    • Schwartzentruber, Jeremy;
    • Carter, Melissa T;
    • Lee, Leo J;
    • Clericuzio, Carol L;
    • Graham, John M;
    • Morris-Rosendahl, Deborah J;
    • Polster, Tilman;
    • Acsadi, Gyula;
    • Townshend, Sharron;
    • Williams, Simon;
    • Halbert, Anne;
    • Isidor, Bertrand;
    • David, Albert;
    • Smyser, Christopher D;
    • Paciorkowski, Alex R;
    • Willing, Marcia;
    • Woulfe, John
    Publication type:
    Article
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