Items where Author is "Casanova, JL"

Journal article

VOGT, G., CHAPGIER, A., YANG, K., CHUZHANOVA, N., FEINBERG, J., FIESCHI, C., BOISSON-DUPOIS, S., ALCAIS, A., FILIPE-SANTOS, O., BUSTAMENTE, J., DE, B., AL-MOHSEN, I., AL-HAJJAR, S., AL-GHONAIUM, A., ADIMI, P., MIRSAEIDI, M., KHALILZADEH, S., DE, L., BAUER, T.R., PUCK, J.M., OCHS, H.D., FURTHNER, D., BELOHRADSKY, B., MANSOURI, D., SCHREIBER, R.D., ABEL, L., COOPER, D.N., SOUDAIS, C. and CASANOVA, J.L., 2005. Gains-of-glycosylation: a large group of pathogenic loss-of-function mutations amenable to chemical complementation in humans. Nature Genetics, 37, pp. 692-700.