Items where Author is "Le, Maréchal"

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Number of items: 5.

Journal article

MASSON, E., LE, M., LEVY, P., CHUZHANOVA, N., COOPER, D.N., CHEN, J.M. and FÉREC, C., 2007. Coinheritance of a novel deletion of the entire SPINK1 gene with a CFTR missense mutation (L997F) in a family with chronic pancreatitis. Molecular Genetics and Metabolism, 92, pp. 168-175.

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 (Mutation in Brief) (683).

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.

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