Works matching IS 03406199 AND DT 2012 AND VI 171 AND IP 11


Results: 27
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    Treacher Collins syndrome: clinical implications for the paediatrician--a new mutation in a severely affected newborn and comparison with three further patients with the same mutation, and review of the literature.

    Published in:
    2012
    By:
    • Schlump JU;
    • Stein A;
    • Hehr U;
    • Karen T;
    • Möller-Hartmann C;
    • Elcioglu NH;
    • Bogdanova N;
    • Woike HF;
    • Lohmann DR;
    • Felderhoff-Mueser U;
    • Linz A;
    • Wieczorek D;
    • Schlump, Jan-Ulrich;
    • Stein, Anja;
    • Hehr, Ute;
    • Karen, Tanja;
    • Möller-Hartmann, Claudia;
    • Elcioglu, Nursel H;
    • Bogdanova, Nadja;
    • Woike, Hartmut Fritz
    Publication type:
    journal article
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    Treacher Collins syndrome: clinical implications for the paediatrician-a new mutation in a severely affected newborn and comparison with three further patients with the same mutation, and review of the literature.

    Published in:
    European Journal of Pediatrics, 2012, v. 171, n. 11, p. 1611, doi. 10.1007/s00431-012-1776-7
    By:
    • Schlump, Jan-Ulrich;
    • Stein, Anja;
    • Hehr, Ute;
    • Karen, Tanja;
    • Möller-Hartmann, Claudia;
    • Elcioglu, Nursel;
    • Bogdanova, Nadja;
    • Woike, Hartmut;
    • Lohmann, Dietmar;
    • Felderhoff-Mueser, Ursula;
    • Linz, Annette;
    • Wieczorek, Dagmar
    Publication type:
    Article
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    Diagnosis delay in West syndrome: misdiagnosis and consequences.

    Published in:
    European Journal of Pediatrics, 2012, v. 171, n. 11, p. 1695, doi. 10.1007/s00431-012-1813-6
    By:
    • Auvin, Stéphane;
    • Hartman, Adam;
    • Desnous, Béatrice;
    • Moreau, Anne-Christine;
    • Alberti, Corinne;
    • Delanoe, Catherine;
    • Romano, Alfonso;
    • Terrone, Gaetano;
    • Kossoff, Eric;
    • Giudice, Ennio;
    • Titomanlio, Luigi
    Publication type:
    Article
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