Items where Author is "Raguénès, O"

Journal article

AUDRÉZET, M.P., CHEN, J.M., RAGUÉNÈS, O., CHUZHANOVA, N., GITEAU, K., LE, M., QUÉRÉ, I., COOPER, D.N. and FÉREC, C., 2004. Genomic rearrangements in the CFTR gene: extensive allelic heterogeneity and diverse mutational mechanisms. Human Mutation, 23, pp. 343-357.

LE, M., CHEN, J.M., LE, G., PLESSIS, G., CHIPPONI, J., CHUZHANOVA, N.A., RAGUÉNÈS, O. and FÉREC, C., 2004. Two novel severe mutations in the pancreatic secretory trypsin inhibitor gene (SPINK1) cause familial or/and hereditary pancreatitis. Human Mutation, 23 (2), p. 205. ISSN 1059-7794

FÉREC, C., CHEN, J.M., RAGUÉNÈS, O., CHUZHANOVA, N., GITEAU, K., EL, M., LE, M., QUÉRÉ, I. and AUDRÉZET, M.P., 2003. Rapid screening of large genomic rearrangements in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene by Quantitative Multiplex Polymerase Chain Reaction of Short Fluorescent Fragments (QMPSF) analysis: high detection rate and diverse mutational mechanisms. American Journal of Human Genetics, 73 (5), p. 559.

LE, M., CHEN, J.M., LE, G., PLESSIS, G., CHIPPONI, J., CHUZHANOVA, N.A., RAGUÉNÈS, O. and FÉREC, C., 2003. Two novel severe mutations in the pancreatic secretory trypsin inhibitor gene (SPINK1) cause familial or/and hereditary pancreatitis. American Journal of Human Genetics, 73 (5), p. 565. ISSN 0002-9297