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Clinical Genetics|April 8, 2017
Comprehensive molecular screening strategy of OCLN in band-like calcification with simplified gyration and polymicrogyriaE M Jenkinson, J H Livingston, M C O'Driscoll, et al.Neurology|February 15, 2013
Elevation of proinflammatory cytokines in patients with Aicardi-Goutières syndromeAsako Takanohashi, Morgan Prust, Jichuan Wang, et al.Plos One|December 3, 2015
ADAR1 Facilitates HIV-1 Replication in Primary CD4+ T CellsEloy Cuadrado, Thijs Booiman, John L van Hamme, et al.Journal of Clinical Immunology|December 13, 2016
Assessment of Type I Interferon Signaling in Pediatric Inflammatory DiseaseGillian I Rice, Isabelle Melki, Marie-Louise Frémond, et al.International Journal of Obesity (2005)|November 3, 2010
Neprilysin, obesity and the metabolic syndromeK F Standeven, K Hess, A M Carter, et al.The Journal of Experimental Medicine|April 3, 2019
Bloom syndrome protein restrains innate immune sensing of micronuclei by cGASMatthieu Gratia, Mathieu P Rodero, Cécile Conrad, et al.Pediatric Rheumatology Online Journal|October 30, 2019
Complexity in unclassified auto-inflammatory disease: a case report illustrating the potential for disease arising from the allelic burden of multiple variantsLori B Tucker, Lovro Lamot, Iwona Niemietz, et al.Neuropediatrics|June 24, 2010
Chilblains as a diagnostic sign of aicardi-goutières syndromeG M H Abdel-Salam, G Y El-Kamah, G I Rice, et al.Frontiers in Immunology|March 23, 2023
Characterization of a mutant samhd1 zebrafish model implicates dysregulation of cholesterol biosynthesis in Aicardi-Goutières syndromeSarah E Withers, Charlie F Rowlands, Victor S Tapia, et al.American Journal of Human Genetics|January 27, 2015
A specific IFIH1 gain-of-function mutation causes Singleton-Merten syndromeFrank Rutsch, Mary MacDougall, Changming Lu, et al.Pageof 20