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Journal of Inherited Metabolic Disease|August 14, 2021
Congenital disorders of glycosylation with defective fucosylationAndreas Hüllen, Kristina Falkenstein, Corina Weigel, et al.Immunological Investigations|July 8, 2020
Clinical and Mutation Description of the First Iranian Cohort of Infantile Inflammatory Bowel Disease: The Iranian Primary Immunodeficiency Registry (IPIDR)Farzaneh Rahmani, Elham Rayzan, Mohammad Reza Rahmani, et al.Journal of Pediatric Gastroenterology and Nutrition|December 21, 2020
Clinical Genomics for the Diagnosis of Monogenic Forms of Inflammatory Bowel Disease: A Position Paper From the Paediatric IBD Porto Group of European Society of Paediatric Gastroenterology, Hepatology and NutritionHolm H Uhlig, Fabienne Charbit-Henrion, Daniel Kotlarz, et al.Scientific Reports|March 16, 2021
Novel CARMIL2 loss-of-function variants are associated with pediatric inflammatory bowel diseaseLuca Bosa, Vritika Batura, Davide Colavito, et al.The Journal of Clinical Investigation|September 20, 2016
FOXP3+ Tregs require WASP to restrain Th2-mediated food allergyWillem S Lexmond, Jeremy A Goettel, Jonathan J Lyons, et al.Inflammatory Bowel Diseases|December 14, 2019
Very Early Onset Inflammatory Bowel Disease: A Clinical Approach With a Focus on the Role of Genetics and Underlying Immune DeficienciesJodie Ouahed, Elizabeth Spencer, Daniel Kotlarz, et al.Journal of Clinical Immunology|February 13, 2014
Very early onset inflammatory bowel disease associated with aberrant trafficking of IL-10R1 and cure by T cell replete haploidentical bone marrow transplantationDhaarini Murugan, Michael H Albert, Jörg Langemeier, et al.The Journal of Allergy and Clinical Immunology|December 3, 2022
Biallelic TLR4 deficiency in humansMelania Capitani, Ahmad A Al-Shaibi, Sumeet Pandey, et al.Nature Genetics|February 28, 2018
Human TGF-β1 deficiency causes severe inflammatory bowel disease and encephalopathyDaniel Kotlarz, Benjamin Marquardt, Tuva Barøy, et al.Nature Methods|February 19, 2024
Generation of complex bone marrow organoids from human induced pluripotent stem cellsStephanie Frenz-Wiessner, Savannah D Fairley, Maximilian Buser, et al.Pageof 7