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Molecular Genetics and Metabolism|October 3, 2002
Seventeen novel mutations that cause profound biotinidase deficiencyB Wolf, K Jensen, G Hüner, et al.Clinical Chemistry|January 1, 1983
Screening for neonatal Duchenne muscular dystrophy by bioluminescence measurement of creatine kinase in a blood sample spotted on paperC Dellamonica, C Collombel, J Cotte, 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.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.Pathologie-Biologie|June 1, 1985
[Augmentation by dilution of the effect of PVP iodine on poliomyelitis virus type I]M D Daireaux, J Cotte-Laffitte, A M QueroJournal De Genetique Humaine|December 1, 1980
Duchenne muscular dystrophy: systematic neonatal screening and earlier detection of carriersH Plauchu, C Dellamonica, J Cotte, et al.International Journal of Cosmetic Science|May 23, 2009
Influence du butyrylhydroxyproline sur le developpement des fibroblastes en cultureM C Martini, C Dolques, N Violland, 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.Pediatrie|April 1, 1984
[Pyridoxine-dependent convulsions : familial case]B Lauras, B Drevon, M O Rolland, et al.Clinica Chimica Acta; International Journal of Clinical Chemistry|August 15, 1983
General (medium-chain) acyl-CoA dehydrogenase deficiency (non-ketotic dicarboxylic aciduria): quantitative urinary excretion pattern of 23 biologically significant organic acids in three casesN Gregersen, S Kølvraa, K Rasmussen, et al.Pageof 14