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  • Phenotypic variability in patients with ADA2 deficiency due to identical homozygous R169Q mutations.

    Published in:
    Rheumatology, 2016, v. 55, n. 5, p. 902, doi. 10.1093/rheumatology/kev439
    By:
    • Van Montfrans, Joris M.;
    • Hartman, Esther A. R.;
    • Braun, Kees P. J.;
    • Hennekam, Eric A. M.;
    • Hak, Elisabeth A.;
    • Nederkoorn, Paul J.;
    • Westendorp, Willeke F.;
    • Bredius, Robbert G. M.;
    • Kollen, Wouter J. W.;
    • Schölvinck, Elisabeth H.;
    • Legger, G. Elizabeth;
    • Meyts, Isabelle;
    • Liston, Adrian;
    • Lichtenbelt, Klaske D.;
    • Giltay, Jacques C.;
    • Van Haaften, Gijs;
    • De Vries Simons, Gaby M.;
    • Leavis, Helen;
    • Sanders, Cornelis J. G.;
    • Bierings, Marc B.
    Publication type:
    Article