Found: 3

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  • Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis.

    Published in:
    European Journal of Human Genetics, 2012, v. 20, n. 6, p. 598, doi. 10.1038/ejhg.2011.269
    By:
    • de Munnik, Sonja A;
    • Bicknell, Louise S;
    • Aftimos, Salim;
    • Al-Aama, Jumana Y;
    • van Bever, Yolande;
    • Bober, Michael B;
    • Clayton-Smith, Jill;
    • Edrees, Alaa Y;
    • Feingold, Murray;
    • Fryer, Alan;
    • van Hagen, Johanna M;
    • Hennekam, Raoul C;
    • Jansweijer, Maaike C E;
    • Johnson, Diana;
    • Kant, Sarina G;
    • Opitz, John M;
    • Ramadevi, A Radha;
    • Reardon, Willie;
    • Ross, Alison;
    • Sarda, Pierre
    Publication type:
    Article

  • Mutations in the pre-replication complex cause Meier-Gorlin syndrome.

    Published in:
    Nature Genetics, 2011, v. 43, n. 4, p. 356, doi. 10.1038/ng.775
    By:
    • Bicknell, Louise S.;
    • Bongers, Ernie M. H. F.;
    • Leitch, Andrea;
    • Brown, Stephen;
    • Schoots, Jeroen;
    • Harley, Margaret E.;
    • Aftimos, Salim;
    • Al-Aama, Jumana Y.;
    • Bober, Michael;
    • Brown, Paul A. J.;
    • van Bokhoven, Hans;
    • Dean, John;
    • Edrees, Alaa Y.;
    • Feingold, Murray;
    • Fryer, Alan;
    • Hoefsloot, Lies H;
    • Kau, Nikolaus;
    • Knoers, Nine V. A. M.;
    • MacKenzie, James;
    • Opitz, John M.
    Publication type:
    Article

  • Meier-Gorlin syndrome: Growth and secondary sexual development of a microcephalic primordial dwarfism disorder.

    Published in:
    American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 11, p. 2733, doi. 10.1002/ajmg.a.35681
    By:
    • de Munnik, Sonja A.;
    • Otten, Barto J.;
    • Schoots, Jeroen;
    • Bicknell, Louise S.;
    • Aftimos, Salim;
    • Al-Aama, Jumana Y.;
    • van Bever, Yolande;
    • Bober, Michael B.;
    • Borm, George F.;
    • Clayton-Smith, Jill;
    • Deal, Cheri L.;
    • Edrees, Alaa Y.;
    • Feingold, Murray;
    • Fryer, Alan;
    • van Hagen, Johanna M.;
    • Hennekam, Raoul C.;
    • Jansweijer, Maaike C.E.;
    • Johnson, Diana;
    • Kant, Sarina G.;
    • Opitz, John M.
    Publication type:
    Article