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Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literature
Journal of Medical Genetics, 2017 M. Schiff, C. Roda, M. Monin, A. Arion, M. Barth, N. Bednarek, M. Bidet, C. Bloch, N. Boddaert, D. Borgel, A. Brassier, A. Brice, A. Bruneel, R. Buissonnière, B. Chabrol, M. Chevalier, V. Cormier-Daire, C. de Baracé, E. de Maistre, A. de Saint-Martin, N. Dorison, V. Drouin‐Garraud, T. Dupré, B. Echenne, P. Edery, F. Feillet, I. Fontan, C. Francannet, F. Labarthe, C. Gitiaux, D. Heron, M. Hully, S. Lamoureux, D. Martin‐Coignard, C. Mignot, G. Morin, T. Pascreau, O. Pincemaille, M. Polak, A. Roubertie, C. Thauvin-Robinet, A. Toutain, G. Viot, S. Vuillaumier-Barrot, N. Seta, P. de Lonlay +45 moresemanticscholar +1 more source
