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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.
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.
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