Works matching IS 03406199 AND DT 2013 AND VI 172 AND IP 7


Results: 20
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    Caroli disease, bilateral diffuse cystic renal dysplasia, situs inversus, postaxial polydactyly, and preauricular fistulas: a ciliopathy caused by a homozygous NPHP3 mutation.

    Published in:
    European Journal of Pediatrics, 2013, v. 172, n. 7, p. 877, doi. 10.1007/s00431-011-1552-0
    By:
    • Calinescu-Tuleasca, Ana-Maria;
    • Bottani, Armand;
    • Rougemont, Anne-Laure;
    • Birraux, Jacques;
    • Gubler, Marie-Claire;
    • Coultre, Claude;
    • Majno, Pietro;
    • Mentha, Gilles;
    • Girardin, Eric;
    • Belli, Dominique;
    • Wildhaber, Barbara
    Publication type:
    Article
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    Defining new guidelines for screening the 22q11.2 deletion based on a clinical and dysmorphologic evaluation of 194 individuals and review of the literature.

    Published in:
    European Journal of Pediatrics, 2013, v. 172, n. 7, p. 927, doi. 10.1007/s00431-013-1964-0
    By:
    • Monteiro, Fabíola;
    • Vieira, Társis;
    • Sgardioli, Ilária;
    • Molck, Miriam;
    • Damiano, Ana;
    • Souza, Josiane;
    • Monlleó, Isabella;
    • Fontes, Marshall;
    • Fett-Conte, Agnes;
    • Félix, Têmis;
    • Leal, Gabriela;
    • M.Ribeiro, Erlane;
    • Banzato, Claudio;
    • Dantas, Clarissa;
    • Lopes-Cendes, Iscia;
    • Gil-da-Silva-Lopes, Vera
    Publication type:
    Article
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    Therapy in pediatric stroke.

    Published in:
    European Journal of Pediatrics, 2013, v. 172, n. 7, p. 867, doi. 10.1007/s00431-012-1863-9
    By:
    • Simma, B.;
    • Höliner, I.;
    • Luetschg, J.
    Publication type:
    Article
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