Found: 5

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  • SHORT syndrome in an adult Brazilian patient.

    Published in:
    American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1635, doi. 10.1002/ajmg.a.62660
    By:
    • Gonçalves, Ana Caroline G.;
    • Moretti, Patricia N.;
    • Cordoba, Mara S.;
    • Oliveira, Renata S.;
    • Lopes, Fernanda S. C.;
    • Oliveira, Silviene F.;
    • Pic‐Taylor, Aline;
    • Castro, Luiz Claudio;
    • Mazzeu, Juliana F.
    Publication type:
    Article

  • Back Cover, Volume 43, Issue 7.

    Published in:
    Human Mutation, 2022, v. 43, n. 7, p. ii, doi. 10.1002/humu.24420
    By:
    • Lima, Ariadne R.;
    • Ferreira, Barbara M.;
    • Zhang, Chaofan;
    • Jolly, Angad;
    • Du, Haowei;
    • White, Janson J.;
    • Dawood, Moez;
    • Lins, Tulio C.;
    • Chiabai, Marcela A.;
    • van Beusekom, Ellen;
    • Cordoba, Mara S.;
    • Caldas Rosa, Erica C.C.;
    • Kayserili, Hulya;
    • Kimonis, Virginia;
    • Wu, Erica;
    • Mellado, Cecilia;
    • Aggarwal, Vineet;
    • Richieri‐Costa, Antonio;
    • Brunoni, Décio;
    • Canó, Talyta M.
    Publication type:
    Article

  • Phenotypic and mutational spectrum of ROR2‐related Robinow syndrome.

    Published in:
    Human Mutation, 2022, v. 43, n. 7, p. 900, doi. 10.1002/humu.24375
    By:
    • Lima, Ariadne R.;
    • Ferreira, Barbara M.;
    • Zhang, Chaofan;
    • Jolly, Angad;
    • Du, Haowei;
    • White, Janson J.;
    • Dawood, Moez;
    • Lins, Tulio C.;
    • Chiabai, Marcela A.;
    • van Beusekom, Ellen;
    • Cordoba, Mara S.;
    • Caldas Rosa, Erica C.C.;
    • Kayserili, Hulya;
    • Kimonis, Virginia;
    • Wu, Erica;
    • Mellado, Cecilia;
    • Aggarwal, Vineet;
    • Richieri‐Costa, Antonio;
    • Brunoni, Décio;
    • Canó, Talyta M.
    Publication type:
    Article

  • Concurrent Loss of Heterozygosity and Mosaic Deletion of 12p13.32pter.

    Published in:
    Cytogenetic & Genome Research, 2016, v. 148, n. 2/3, p. 174, doi. 10.1159/000445853
    By:
    • Faria, Rosana S.;
    • de Oliveira, Claudiner P.;
    • da Costa, Marcella M.;
    • da S. Rosa, Maria T.a.;
    • Córdoba, Mara S.;
    • Pic-Taylor, aline;
    • Ferrari, Iris;
    • de Oliveira, Silviene F.;
    • Mazzeu, Juliana F.
    Publication type:
    Article

  • Partial 1q Duplications and Associated Phenotype.

    Published in:
    Molecular Syndromology, 2016, v. 6, n. 6, p. 297, doi. 10.1159/000443599
    By:
    • Morris, Marcos L.M.;
    • Baroneza, José E.;
    • Teixeira, Patricia;
    • Medina, Cristina T.N.;
    • Cordoba, Mara S.;
    • Versiani, Beatriz R.;
    • Roese, Liege L.;
    • Freitas, Erika L.;
    • Fonseca, Ana C.S.;
    • dos Santos, Maria C.G.;
    • Pic-Taylor, Aline;
    • Rosenberg, Carla;
    • Oliveira, Silviene F.;
    • Ferrari, Iris;
    • Mazzeu, Juliana F.
    Publication type:
    Article