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The Journal of Clinical Investigation|May 2, 2006
Response to: "Rescuing the NIH before it is too late"Duane F Alexander, Barbara M Alving, James F Battey, et al.
Nature Genetics|June 1, 2005
Gains of glycosylation comprise an unexpectedly large group of pathogenic mutationsGuillaume Vogt, Ariane Chapgier, Kun Yang, 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 New England Journal of Medicine|April 18, 2019
Lentiviral Gene Therapy Combined with Low-Dose Busulfan in Infants with SCID-X1Ewelina Mamcarz, Sheng Zhou, Timothy Lockey, et al.
The Journal of Allergy and Clinical Immunology|August 20, 2022
Aberrant T-cell exhaustion in severe combined immunodeficiency survivors with poor T-cell reconstitution after transplantationRoxane Labrosse, Ines Boufaied, Benoîte Bourdin, et al.
The Journal of Allergy and Clinical Immunology|December 17, 2009
Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndromeKarin R Engelhardt, Sean McGhee, Sabine Winkler, 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|January 30, 2024
Allogeneic hematopoietic cell transplantation is effective for p47phox chronic granulomatous disease: A Primary Immune Deficiency Treatment Consortium studyEyal Grunebaum, Danielle E Arnold, Brent Logan, et al.
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