Found: 4

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  • Mutations in NLRP5 are associated with reproductive wastage and multilocus imprinting disorders in humans.

    Published in:
    Nature Communications, 2015, v. 6, n. 9, p. 8086, doi. 10.1038/ncomms9086
    By:
    • Docherty, Louise E.;
    • Rezwan, Faisal I.;
    • Poole, Rebecca L.;
    • Turner, Claire L. S.;
    • Kivuva, Emma;
    • Maher, Eamonn R.;
    • Smithson, Sarah F.;
    • Hamilton-Shield, Julian P.;
    • Patalan, Michal;
    • Gizewska, Maria;
    • Peregud-Pogorzelski, Jaroslaw;
    • Beygo, Jasmin;
    • Buiting, Karin;
    • Horsthemke, Bernhard;
    • Soellner, Lukas;
    • Begemann, Matthias;
    • Eggermann, Thomas;
    • Baple, Emma;
    • Mansour, Sahar;
    • Temple, I. Karen
    Publication type:
    Article

  • Dominant missense mutations in ABCC9 cause Cantú syndrome.

    Published in:
    Nature Genetics, 2012, v. 44, n. 7, p. 793, doi. 10.1038/ng.2324
    By:
    • Harakalova, Magdalena;
    • van Harssel, Jeske J T;
    • Terhal, Paulien A;
    • van Lieshout, Stef;
    • Duran, Karen;
    • Renkens, Ivo;
    • Amor, David J;
    • Wilson, Louise C;
    • Kirk, Edwin P;
    • Turner, Claire L S;
    • Shears, Debbie;
    • Garcia-Minaur, Sixto;
    • Lees, Melissa M;
    • Ross, Alison;
    • Venselaar, Hanka;
    • Vriend, Gert;
    • Takanari, Hiroki;
    • Rook, Martin B;
    • van der Heyden, Marcel A G;
    • Asselbergs, Folkert W
    Publication type:
    Article

  • Mutations in phospholipase C epsilon 1 are not sufficient to cause diffuse mesangial sclerosis.

    Published in:
    Kidney International, 2009, v. 75, n. 4, p. 415, doi. 10.1038/ki.2008.573
    By:
    • Gilbert, Rodney D.;
    • Turner, Claire L. S.;
    • Gibson, Jane;
    • Bass, Paul S.;
    • Haq, Mushfequr R.;
    • Cross, Esta;
    • Bunyan, David J.;
    • Collins, Andrew R.;
    • Tapper, William J.;
    • Needell, Juliet C.;
    • Dell, Beverley;
    • Morton, Newton E.;
    • Temple, I. Karen;
    • Robinson, David O.
    Publication type:
    Article

  • Inside the 8p23.1 duplication syndrome; eight microduplications of likely or uncertain clinical significance.

    Published in:
    American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 9, p. 2052, doi. 10.1002/ajmg.a.37120
    By:
    • Barber, John C. K.;
    • Rosenfeld, Jill A.;
    • Graham, John M.;
    • Kramer, Nancy;
    • Lachlan, Katherine L.;
    • Bateman, Mark S.;
    • Collinson, Morag N.;
    • Stadheim, Barbro Fossøy;
    • Turner, Claire L. S.;
    • Gauthier, Jacqueline N.;
    • Reimschisel, Tyler E.;
    • Qureshi, Athar M.;
    • Dabir, Tabib A.;
    • Humphreys, Mervyn W.;
    • Marble, Michael;
    • Huang, Taosheng;
    • Beal, Sarah J.;
    • Massiah, Joanne;
    • Taylor, Emma‐Jane;
    • Wynn, Sarah L.
    Publication type:
    Article