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JIMD Reports|February 23, 2013
Expanding the Spectrum of PMM2-CDG PhenotypeSandrine Vuillaumier-Barrot, Bertrand Isidor, Thierry Dupré, et al.Human Mutation|April 22, 2005
A new insight into PMM2 mutations in the French populationChristiane Le Bizec, Sandrine Vuillaumier-Barrot, Anne Barnier, et al.Plos One|July 30, 2010
Identification of roles for peptide: N-glycanase and endo-beta-N-acetylglucosaminidase (Engase1p) during protein N-glycosylation in human HepG2 cellsIsabelle Chantret, Magali Fasseu, Karim Zaoui, et al.Molecular Genetics and Metabolism|December 27, 2005
PMM2 intronic branch-site mutations in CDG-IaSandrine Vuillaumier-Barrot, Christiane Le Bizec, Pascale De Lonlay, et al.European Journal of Medical Genetics|July 21, 2015
From splitting GLUT1 deficiency syndromes to overlapping phenotypesMarie Hully, Sandrine Vuillaumier-Barrot, Christiane Le Bizec, et al.Pageof 1