Human Genome Epidemiology Literature Finder
Records 1 - 4 (of 4 Records) |
Query Trace: Syndrome and LRBA[original query] |
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Pediatric-onset Evans syndrome: Heterogeneous presentation and high frequency of monogenic disorders including LRBA and CTLA4 mutations. Clinical immunology (Orlando, Fla.) 2018 1 188 52-57. Besnard Caroline, Levy Eva, Aladjidi Nathalie, Stolzenberg Marie-Claude, Magerus-Chatinet Aude, Alibeu Olivier, Nitschke Patrick, Blanche Stéphane, Hermine Olivier, Jeziorski Eric, Landman-Parker Judith, Leverger Guy, Mahlaoui Nizar, Michel Gérard, Pellier Isabelle, Suarez Felipe, Thuret Isabelle, de Saint-Basile Geneviève, Picard Capucine, Fischer Alain, Neven Bénédicte, Rieux-Laucat Frédéric, Quartier Pierre, |
Pediatric Evans syndrome is associated with a high frequency of potentially damaging variants in immune genes. Blood 2019 Apr . Hadjadj Jérôme, Aladjidi Nathalie, Fernandes Helder, Leverger Guy, Magérus-Chatinet Aude, Mazerolles Fabienne, Stolzenberg Marie-Claude, Jacques Sidonie, Picard Capucine, Rosain Jérémie, Fourrage Cécile, Hanein Sylvain, Zarhrate Mohammed, Pasquet Marlène, Abou Chahla Wadih, Barlogis Vincent, Bertrand Yves, Pellier Isabelle, Colomb Bottollier Elodie, Fouyssac Fanny, Blouin Pascale, Thomas Caroline, Cheikh Nathalie, Dore Eric, Pondarre Corinne, Plantaz Dominique, Jeziorski Eric, Millot Frédéric, Garcelon Nicolas, Ducassou Stéphane, Perel Yves, Leblanc Thierry, Neven Bénédicte, Fischer Alain, Rieux-Laucat Frédéric, |
Genetic Sequencing of Pediatric Patients Identifies Mutations in Monogenic Inflammatory Bowel Disease Genes that Translate to Distinct Clinical Phenotypes. Clinical and translational gastroenterology 2020 Feb 11 (2): e00129. Ashton James J, Mossotto Enrico, Stafford Imogen S, Haggarty Rachel, Coelho Tracy A F, Batra Akshay, Afzal Nadeem A, Mort Matthew, Bunyan David, Beattie Robert Mark, Ennis Sar |
High Prevalence of Hemophagocytic Lymphohistiocytosis in Acute Liver Failure of Infancy. The Journal of pediatrics 2022 7 250 67-74.e1. Hadži? Nedim, Molnar Emese, Height Sue, Kovács Gabor, Dhawan Anil, Andrikovics Hajnalka, Worth Austen, Gilmour Kimberly |
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