Works matching DE "CAMPTODACTYLY"


Results: 50
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    Blau syndrome.

    Published in:
    QJM: An International Journal of Medicine, 2011, v. 104, n. 11, p. 997, doi. 10.1093/qjmed/hcq188
    By:
    • Martin, J.;
    • Kodjikian, L.;
    • Duquesne, A.;
    • Le Scanff, J.;
    • Sève, P.
    Publication type:
    Article
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    CACP, encoding a secreted proteoglycan, is mutated in camptodactyly-arthropathy-coxa vara-pericarditis syndrome.

    Published in:
    Nature Genetics, 1999, v. 23, n. 3, p. 319, doi. 10.1038/15496
    By:
    • Marcelino, Jose;
    • Carpten, John D.;
    • Suwairi, Wafaa M.;
    • Gutierrez, Orlando M.;
    • Schwartz, Stuart;
    • Robbins, Christiane;
    • Sood, Raman;
    • Makalowska, Izabela;
    • Baxevanis, Andy;
    • Johnstone, Brian;
    • Laxer, Ronald M.;
    • Zemel, Lawrence;
    • Kim, Chong Ae;
    • Herd, J. Kenneth;
    • Ihle, Johannes;
    • Williams, Cal;
    • Johnson, Mark;
    • Raman, Vidya;
    • Alonso, Luís Garcia
    Publication type:
    Article
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    Reply.

    Published in:
    Pediatric Radiology, 2004, v. 34, n. 6, p. 513, doi. 10.1007/s00247-004-1181-0
    By:
    • Brune, Thomas;
    • Schiborr, Manfred;
    • Maintz, David;
    • Marquardt, Thorsten;
    • Frosch, Michael;
    • Harms, Erik
    Publication type:
    Article
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    A case of Marshall-Smith or Weaver syndrome.

    Published in:
    Journal of the Royal Society of Medicine, 1989, v. 82, n. 11, p. 682, doi. 10.1177/014107688908201117
    By:
    • Smyth, R. L.;
    • Gould, J. D. M.;
    • Baraitser, M.
    Publication type:
    Article
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    Bilateral Camptodactyly in Twin Sisters.

    Published in:
    Erciyes Medical Journal / Erciyes Tip Dergisi, 2015, v. 37, n. 2, p. 72, doi. 10.5152/etd.2015.7397
    By:
    • Uçar, Ülkü;
    • Duruöz, Mehmet Tuncay
    Publication type:
    Article
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