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Human Mutation|December 2, 2010
Novel mutations in TTC37 associated with tricho-hepato-enteric syndromeAlexandre Fabre, Christine Martinez-Vinson, Bertrand Roquelaure, et al.Frontiers in Immunology|December 3, 2019
Chronic Intestinal Pseudo-Obstruction and Lymphoproliferative Syndrome as a Novel Phenotype Associated With Tetratricopeptide Repeat Domain 7A DeficiencyMarie-Thérèse El-Daher, Julie Lemale, Julie Bruneau, et al.Frontiers in Immunology|June 6, 2018
Combined Immunodeficiency in Patients With Trichohepatoenteric SyndromeFrédéric Vély, Vincent Barlogis, Evelyne Marinier, et al.Nature Communications|January 14, 2017
Contractile forces at tricellular contacts modulate epithelial organization and monolayer integrityJulie Salomon, Cécile Gaston, Jérémy Magescas, et al.Archives of Disease in Childhood|October 11, 2013
Syndromic (phenotypic) diarrhoea of infancy/tricho-hepato-enteric syndromeAlexandre Fabre, Anne Breton, Marie-Edith Coste, et al.The Journal of Clinical Endocrinology and Metabolism|June 7, 2021
Implication of Heterozygous Variants in Genes of the Leptin-Melanocortin Pathway in Severe ObesitySophie Courbage, Christine Poitou, Johanne Le Beyec-Le Bihan, et al.Journal of Pediatric Gastroenterology and Nutrition|April 3, 2026
Long-term outcomes of children with ulcerative colitis after acute severe colitis: A GETAID pédiatrique multicenter studyManon Cochet, Agathe Beauvais, Frank Ruemmele, et al.Frontiers in Genetics|February 13, 2024
Recurrent "outsider" intronic variation in the SLC5A6 gene causes severe mixed axonal and demyelinating neuropathy, cyclic vomiting and optic atrophy in 3 families from MaghrebLamisse Mansour-Hendili, Cyril Gitiaux, Madeleine Harion, et al.The Journal of Pediatrics|September 1, 2022
Factors Predicting Statin Initiation During Childhood in Familial Hypercholesterolemia: Importance of Genetic DiagnosisNoel Peretti, Alexandre Vimont, Emmanuel Mas, et al.The Journal of Allergy and Clinical Immunology|September 2, 2014
Immune deficiency-related enteropathy-lymphocytopenia-alopecia syndrome results from tetratricopeptide repeat domain 7A deficiencyRoxane Lemoine, Jana Pachlopnik-Schmid, Henner F Farin, et al.Pageof 4