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A novel FGG missense variant associated with fibrinogen storage disease in a large family from Quebec
Article de revueHaemophilia, 30 (3), 2024.
Short and Long-Term Outcomes in Hirschsprung Disease: Are the Syndrome-Associated Patients Really Doing Worse
Article de revueJ Pediatr Gastroenterol Nutr, 77 (5), 2023.
Early diagnosis and successful long-term management of a rare, severe lysosomal acid lipase deficiency/Wolman disease patient: Infancy to age five
Article de revueCan Liver J, 5 (3), 2022.
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