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Blood|April 23, 2014
Inherited biallelic CSF3R mutations in severe congenital neutropeniaAlexa Triot, Päivi M Järvinen, Juan I Arostegui, et al.Inflammatory Bowel Diseases|May 23, 2019
CARMIL2 Deficiency Presenting as Very Early Onset Inflammatory Bowel DiseaseThomas Magg, Anna Shcherbina, Duran Arslan, et al.The New England Journal of Medicine|November 6, 2009
Inflammatory bowel disease and mutations affecting the interleukin-10 receptorErik-Oliver Glocker, Daniel Kotlarz, Kaan Boztug, et al.Nature Reviews. Gastroenterology & Hepatology|October 3, 2023
Precision medicine in monogenic inflammatory bowel disease: proposed mIBD REPORT standardsHolm H Uhlig, Claire Booth, Judy Cho, et al.The Journal of Experimental Medicine|February 27, 2013
Loss-of-function mutations in the IL-21 receptor gene cause a primary immunodeficiency syndromeDaniel Kotlarz, Natalia Ziętara, Gulbu Uzel, et al.Blood|October 4, 2013
A Mendelian predisposition to B-cell lymphoma caused by IL-10R deficiencyBénédicte Neven, Emilie Mamessier, Julie Bruneau, et al.Inflammatory Bowel Diseases|October 13, 2017
Enhanced TH17 Responses in Patients with IL10 Receptor Deficiency and Infantile-onset IBDDror S Shouval, Liza Konnikova, Alexandra E Griffith, et al.Gastroenterology|February 22, 2020
Prevalence and Clinical Features of Inflammatory Bowel Diseases Associated With Monogenic Variants, Identified by Whole-Exome Sequencing in 1000 Children at a Single CenterEileen Crowley, Neil Warner, Jie Pan, et al.Gastroenterology|May 3, 2012
Loss of interleukin-10 signaling and infantile inflammatory bowel disease: implications for diagnosis and therapyDaniel Kotlarz, Rita Beier, Dhaarini Murugan, et al.Proceedings of the National Academy of Sciences of the United States of America|December 29, 2018
Human RIPK1 deficiency causes combined immunodeficiency and inflammatory bowel diseasesYue Li, Marita Führer, Ehsan Bahrami, et al.Pageof 7