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Frontiers in Public Health|April 4, 2025
HLS19-DIGI - a new instrument for measuring digital health literacy: development, validation and associations with determinants and health outcomes in 13 countriesDiane Levin-Zamir, Stephan Van den Broucke, Éva Bíró, et al.The Journal of Pediatrics|October 20, 2022
Individual and Family Determinants for Quality of Life in Parents of Children with Inborn Errors of Metabolism Requiring a Restricted Diet: A Multilevel Analysis ApproachAbdoulaye Ouattara, Noemie Resseguier, Aline Cano, et al.Orphanet Journal of Rare Diseases|November 22, 2025
Characterization of a novel SERPINA1 variant carrying two missense mutations: molecular mechanisms and functional impactCeline Leon, Marie-Françoise Odou, Bertrand Roquelaure, et al.Journal of Pediatric Gastroenterology and Nutrition|June 12, 2021
A European Survey on Digestive Perianastomotic Ulcerations, a Rare Crohn-like Disorder Occurring in Children and Young AdultsChrystele Madre, Mario Mašić, Daniela Prlenda-Touilleux, et al.The Journal of Pediatrics|March 9, 2020
Health Status of French Young Patients with Inborn Errors of Metabolism with Lifelong Restricted DietAline Cano, Noemie Resseguier, Abdoulaye Ouattara, et al.The Journal of Pediatrics|November 17, 2021
Determinants of Quality of Life in Children with Inborn Errors of Metabolism Receiving a Restricted DietAbdoulaye Ouattara, Noemie Resseguier, Aline Cano, et al.International Journal of Gynecological Cancer : Official Journal of the International Gynecological Cancer Society|March 5, 2025
Primary ovarian leiomyosarcoma: results from an analysis by the French Sarcoma Group (Ovarian SArcoma MAnagement - OSAMA Study)Domenico Ferraioli, Fulvio Borella, Marie Meurer, et al.Epilepsia|June 20, 2022
Molecular and clinical descriptions of patients with GABAA receptor gene variants (GABRA1, GABRB2, GABRB3, GABRG2): A cohort study, review of literature, and genotype-phenotype correlationPierre-Yves Maillard, Sarah Baer, Élise Schaefer, et al.American Journal of Human Genetics|February 13, 2018
Loss-of-Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone FragilityClothilde Esteve, Ludmila Francescatto, Perciliz L Tan, et al.American Journal of Medical Genetics. Part A|September 9, 2016
Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11Alice Goldenberg, Florence Riccardi, Aude Tessier, et al.Pageof 34