Inici
→
Recerca: articles, congressos, llibres
→
Documents OpenAIRE (Open Access Infrastructure for Research in Europe)
→
Visualitza Documents OpenAIRE (Open Access Infrastructure for Research in Europe) per autoria

Visualitza Documents OpenAIRE (Open Access Infrastructure for Research in Europe) per autoria "Eberherr, Andreas C."

Ara mostrant els elements 1-1 de 1

Somatic alterations compromised molecular diagnosis of DOCK8 hyper-IgE syndrome caused by a novel intronic splice site mutation

Hagl, Beate; Spielberger, Benedikt D.; Thoene, Silvia; Bonnal, Sophie; Mertes, Christian; Winter, Christof; Nijman, Isaac J.; Verduin, Shira; Eberherr, Andreas C.; Puel, Anne; Schindler, Detlev; Ruland, Jürgen; Meitinger, Thomas; Gagneur, Julien; Orange, Jordan S.; van Gijn, Marielle E.; Renner, Ellen D. (Nature Research, 2018)

In hyper-IgE syndromes (HIES), a group of primary immunodeficiencies clinically overlapping with atopic dermatitis, early diagnosis is crucial to initiate appropriate therapy and prevent irreversible complications. ...