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Frontiers in Immunology|October 10, 2022
Eosinophilic gastrointestinal disorders in patients with inborn errors of immunity: Data from the USIDNET registryPaulina Tran, Laura Gober, Elizabeth K Garabedian, et al.Clinical Immunology (Orlando, Fla.)|November 1, 2005
HLA B44 is associated with decreased severity of autoimmune lymphoproliferative syndrome in patients with CD95 defects (ALPS type Ia)Marla M Vacek, Alejandro A Schäffer, Joie Davis, et al.American Journal of Medical Genetics. Part A|February 26, 2004
Familial immunodeficiency with cutaneous vasculitis, myoclonus, and cognitive impairmentBeverly N Hay, Julie E Martin, Barbara Karp, et al.Journal of Human Genetics|April 8, 2006
A novel IL2RG mutation associated with maternal T lymphocyte engraftment in a patient with severe combined immunodeficiencyRichard Kellermayer, Amy P Hsu, József Stankovics, et al.Human Mutation|October 26, 2017
Whole exome and whole genome sequencing with dried blood spot DNA without whole genome amplificationLaia Bassaganyas, George Freedman, Dedeepya Vaka, et al.Pediatrics|April 18, 2007
Brain abnormalities in patients with hyperimmunoglobulin E syndromeAlexandra F Freeman, Christina J Collura-Burke, Nicholas J Patronas, et al.Journal of Clinical Immunology|February 14, 2015
Nijmegen breakage syndrome detected by newborn screening for T cell receptor excision circles (TRECs)Jay P Patel, Jennifer M Puck, Rajgopal Srinivasan, et al.Proceedings of the National Academy of Sciences of the United States of America|February 28, 2002
Drug selection with paclitaxel restores expression of linked IL-2 receptor gamma -chain and multidrug resistance (MDR1) transgenes in canine bone marrowThomas Licht, Mark Haskins, Paula Henthorn, et al.Journal of Clinical Immunology|June 17, 2015
IL2RG reversion event in a common lymphoid progenitor leads to delayed diagnosis and milder phenotypeAmy P Hsu, Stefania Pittaluga, Bianca Martinez, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 13, 2012
Autoimmune lymphoproliferative syndrome due to FAS mutations outside the signal-transducing death domain: molecular mechanisms and clinical penetranceAmy P Hsu, Kennichi C Dowdell, Joie Davis, et al.Pageof 17