Found: 3

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  • Recurrent Copy Number Variants Associated with Syndromic Short Stature of Unknown Cause.

    Published in:
    Hormone Research in Paediatrics, 2018, v. 89, n. 1, p. 13, doi. 10.1159/000481777
    By:
    • Homma, Thais K.;
    • Krepischi, Ana C.V.;
    • Furuya, Tatiane K.;
    • Honjo, Rachel S.;
    • Malaquias, Alexsandra C.;
    • Bertola, Debora R.;
    • Costa, Silvia S.;
    • Canton, Ana P.;
    • Roela, Rosimeire A.;
    • Freire, Bruna L.;
    • Kim, Chong A.;
    • Rosenberg, Carla;
    • Jorge, Alexander A.L.
    Publication type:
    Article

  • 5q12.1 deletion: Delineation of a phenotype including mental retardation and ocular defects.

    Published in:
    American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 4, p. 725, doi. 10.1002/ajmg.a.33758
    By:
    • Jaillard, Sylvie;
    • Andrieux, Joris;
    • Plessis, Ghislaine;
    • Krepischi, Ana C.V.;
    • Lucas, Josette;
    • David, Véronique;
    • Le Brun, Marine;
    • Bertola, Debora R.;
    • David, Albert;
    • Belaud-Rotureau, Marc-Antoine;
    • Mosser, Jean;
    • Lazaro, Leila;
    • Treguier, Catherine;
    • Rosenberg, Carla;
    • Odent, Sylvie;
    • Dubourg, Christèle
    Publication type:
    Article

  • Li-Fraumeni-like syndrome associated with a large BRCA1 intragenic deletion.

    Published in:
    BMC Cancer, 2012, v. 12, n. 1, p. 237, doi. 10.1186/1471-2407-12-237
    By:
    • Silva, Amanda Gonçalves;
    • Ewald, Ingrid Petroni;
    • Sapienza, Marina;
    • Pinheiro, Manuela;
    • Peixoto, Ana;
    • de Nóbrega, Amanda França;
    • Carraro, Dirce M.;
    • Teixeira, Manuel R.;
    • Ashton-Prolla, Patricia;
    • Achatz, Maria Isabel W.;
    • Rosenberg, Carla;
    • Krepischi, Ana C.V.
    Publication type:
    Article