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The Journal of Experimental Medicine|August 26, 2018
Life-threatening influenza pneumonitis in a child with inherited IRF9 deficiencyNicholas Hernandez, Isabelle Melki, Huie Jing, et al.
Frontiers in Immunology|April 30, 2019
Targeted NGS Platforms for Genetic Screening and Gene Discovery in Primary ImmunodeficienciesCristina Cifaldi, Immacolata Brigida, Federica Barzaghi, et al.
The Journal of Experimental Medicine|June 16, 2010
Expansion of immunoglobulin-secreting cells and defects in B cell tolerance in Rag-dependent immunodeficiencyJolan E Walter, Francesca Rucci, Laura Patrizi, et al.
The Journal of Allergy and Clinical Immunology|April 21, 2020
Cutaneous barrier leakage and gut inflammation drive skin disease in Omenn syndromeRosita Rigoni, Elena Fontana, Kerry Dobbs, et al.
Frontiers in Immunology|June 20, 2019
Corrigendum: Targeted NGS Platforms for Genetic Screening and Gene Discovery in Primary ImmunodeficienciesCristina Cifaldi, Immacolata Brigida, Federica Barzaghi, et al.
Science Immunology|August 8, 2017
Characterization of T and B cell repertoire diversity in patients with RAG deficiencyYu Nee Lee, Francesco Frugoni, Kerry Dobbs, et al.
The Journal of Allergy and Clinical Immunology|March 15, 2020
Long-term follow-up of 168 patients with X-linked agammaglobulinemia reveals increased morbidity and mortalityVassilios Lougaris, Annarosa Soresina, Manuela Baronio, et al.
The Journal of Experimental Medicine|February 3, 2017
EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delayStefano Volpi, Yasuhiro Yamazaki, Patrick M Brauer, et al.
The Journal of Allergy and Clinical Immunology. in Practice|September 22, 2018
Comparison of Common Monogenic Defects in a Large Predominantly Antibody Deficiency CohortReza Yazdani, Hassan Abolhassani, Fatemeh Kiaee, et al.
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