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Clinical Immunology (Orlando, Fla.)|February 14, 2004
Clinical, immunologic and genetic analysis of 29 patients with autosomal recessive hyper-IgM syndrome due to Activation-Induced Cytidine Deaminase deficiencyPierre Quartier, Jacinta Bustamante, Ozden Sanal, et al.
Clinical Immunology (Orlando, Fla.)|July 19, 2020
Paediatric MAS/HLH caused by a novel monoallelic activating mutation in p110δVassilios Lougaris, Manuela Baronio, Andrea Castagna, et al.
BMC Medical Genetics|January 4, 2014
Intergenerational and intrafamilial phenotypic variability in 22q11.2 deletion syndrome subjectsEmilia Cirillo, Giuliana Giardino, Vera Gallo, et al.
The New England Journal of Medicine|October 30, 2009
A homozygous CARD9 mutation in a family with susceptibility to fungal infectionsErik-Oliver Glocker, Andre Hennigs, Mohammad Nabavi, et al.
International Archives of Allergy and Immunology|February 13, 2008
Toll-like receptor stimulation induces higher TNF-alpha secretion in peripheral blood mononuclear cells from patients with hyper IgE syndromeMehdi Yeganeh, Philipp Henneke, Nima Rezaei, et al.
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