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Journal of Inherited Metabolic Disease|January 1, 1991
Molecular analysis of a human liver mitochondrial ornithine transcarbamylase deficiencyJ M Berrez, O Bardot, M C Thiard, et al.Journal of Inherited Metabolic Disease|December 5, 2006
Pregnancy and lactation in a woman with classical galactosaemia heterozygous for p.Q188R and p.R333WA Ohlsson, J Nasiell, U von DöbelnJournal of Inherited Metabolic Disease|July 13, 2004
Carrier screening for Canavan disease in AustraliaV M Howell, A L Proos, D LaRue, et al.Journal of Inherited Metabolic Disease|July 13, 2004
Sedation with 4-hydroxybutyric acid: a potential pitfall in the diagnosis of SSADH deficiencyN I Wolf, D Haas, G F Hoffmann, et al.Journal of Inherited Metabolic Disease|January 1, 1992
Persistent hypermethioninaemia with dominant inheritanceH J Blom, A J Davidson, J D Finkelstein, et al.Journal of Inherited Metabolic Disease|January 1, 1992
Molecular detection of altered X-inactivation patterns in the diagnosis of genetic diseaseS MalcolmJournal of Inherited Metabolic Disease|January 1, 1992
Abnormalities of human sex determinationM A Ferguson-SmithJournal of Inherited Metabolic Disease|January 1, 1992
Duchenne muscular dystrophy: gene and gene product; mechanism of mutation in the geneR G WortonJournal of Inherited Metabolic Disease|January 1, 1992
Molecular genetics of mineral metabolic disordersR V ThakkerJournal of Inherited Metabolic Disease|January 1, 1992
Adrenoleukodystrophy: phenotypic variability and implications for therapyH W Moser, A B Moser, K D Smith, et al.Pageof 429