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Loss-of-function mutations in the IL-21 receptor gene cause a primary immunodeficiency syndrome.
Kotlarz D, Ziętara N, Uzel G, Weidemann T, Braun CJ, Diestelhorst J, Krawitz PM, Robinson PN, Hecht J, Puchałka J, Gertz EM, Schäffer AA, Lawrence MG, Kardava L, Pfeifer D, Baumann U, Pfister ED, Hanson EP, Schambach A, Jacobs R, Kreipe H, Moir S, Milner JD, Schwille P, Mundlos S, Klein C. Kotlarz D, et al. Among authors: pfister ed. J Exp Med. 2013 Mar 11;210(3):433-43. doi: 10.1084/jem.20111229. Epub 2013 Feb 25. J Exp Med. 2013. PMID: 23440042 Free PMC article.
A diagnostic score for biliary atresia.
Pfister ED, Petersen C, Kübler J, Baumann U. Pfister ED, et al. J Hepatol. 2014 Dec;61(6):1440. doi: 10.1016/j.jhep.2014.07.037. Epub 2014 Sep 6. J Hepatol. 2014. PMID: 25195553 Free article. No abstract available.
148 results