Works matching IS 10184813 AND DT 2005 AND VI 13 AND IP 3

Results: 21
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    CNGB3 mutations account for 50%of all cases with autosomal recessive achromatopsia.

    Published in:
    European Journal of Human Genetics, 2005, v. 13, n. 3, p. 302, doi. 10.1038/sj.ejhg.5201269
    By:
    • Kohl, Susanne;
    • Varsanyi, Balazs;
    • Antunes, Gesine Abadin;
    • Baumann, Britta;
    • Hoyng, Carel B.;
    • Jägle, Herbert;
    • Rosenberg, Thomas;
    • Kellner, Ulrich;
    • Lorenz, Birgit;
    • Salati, Roberto;
    • Jurklies, Bernhard;
    • Farkas, Agnes;
    • Andreasson, Sten;
    • Weleber, Richard G.;
    • Jacobson, Samuel G.;
    • Rudolph, Günther;
    • Castellan, Claudio;
    • Dollfus, Helene;
    • Legius, Eric;
    • Anastasi, Mario
    Publication type:
    Article
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    MVK mutations and associated clinical features in Italian patients affected with autoinflammatory disorders and recurrent fever.

    Published in:
    European Journal of Human Genetics, 2005, v. 13, n. 3, p. 314, doi. 10.1038/sj.ejhg.5201323
    By:
    • D'Osualdo, Andrea;
    • Picco, Paolo;
    • Caroli, Francesco;
    • Gattorno, Marco;
    • Giacchino, Raffaella;
    • Fortini, Patrizia;
    • Corona, Fabrizia;
    • Tommasini, Alberto;
    • Salvi, Giuseppe;
    • Specchia, Fernando;
    • Obici, Laura;
    • Meini, Antonella;
    • Ricci, Antonio;
    • Seri, Marco;
    • Ravazzolo, Roberto;
    • Martini, Alberto;
    • Ceccherini, Isabella
    Publication type:
    Article
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    Genomics: The human genome, revisited.

    Published in:
    European Journal of Human Genetics, 2005, v. 13, n. 3, p. 265, doi. 10.1038/sj.ejhg.5201348
    By:
    • van Ommen, Gert-Jan B.
    Publication type:
    Article
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