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Prenatal Diagnosis|March 1, 1985
Prenatal diagnosis of a true mosaic trisomy 20 substantiated by demonstration of a gene dosage effect for adenosine deaminase (ADA)P Steinbach, M Djalali, M O RollandHuman Mutation|June 22, 2000
Identification of 5 novel mutations in the AGXT geneO Basmaison, M O Rolland, P Cochat, et al.Annales De Biologie Clinique|January 1, 1977
[Hyperglycinemia without ketosis. Biochemical and enzymatic study]N Dingeon, M O Rolland, P Divry, et al.Journal of Neurology|February 14, 1978
Erythrocyte ghost (Na+ + K+) ATPase activity in mice with hereditary muscular dystrophy (strain C57 BL/64J/dy)G Souweine, M O Rolland, I Maire, et al.Journal of Inherited Metabolic Disease|February 22, 2000
Effect of sodium benzoate in the treatment of atypical nonketotic hyperglycinaemiaJ M Neuberger, S Schweitzer, M O Rolland, et al.Nephrologie|January 1, 1994
[Molecular pathology of type 1 primary hyperoxaluria]P Cochat, M O Rolland, D Bozon, et al.Journal of Inherited Metabolic Disease|April 8, 2006
Genetic heterogeneity of the GLDC gene in 28 unrelated patients with glycine encephalopathyC Conter, M O Rolland, D Cheillan, et al.Pediatric Neurology|May 1, 1993
Mevalonic aciduria in 3 siblings: a new recognizable metabolic encephalopathyJ Mancini, N Philip, B Chabrol, et al.Journal of Inherited Metabolic Disease|January 26, 2006
First-trimester enzymatic and molecular prenatal diagnosis of mevalonic aciduriaM O Rolland, L Cuisset, J Le Bozec, et al.Journal of Inherited Metabolic Disease|January 26, 2006
False-positive results in neonatal screening for cystic fibrosis based on a three-stage protocol (IRT/DNA/IRT): Should we adjust IRT cut-off to ethnic origin?D Cheillan, M Vercherat, F Chevalier-Porst, et al.Pageof 5