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European Journal of Biochemistry|November 1, 1979
Increased urinary excretion of free N-acetylneuraminic acid in thirteen patients with Salla diseaseM Renlund, M A Chester, A Lundblad, et al.American Journal of Human Genetics|June 1, 1997
Lysinuric protein intolerance (LPI) gene maps to the long arm of chromosome 14T Lauteala, P Sistonen, M L Savontaus, et al.Human Mutation|January 1, 1994
Time-resolved fluorometry in the diagnosis of Leber hereditary optic neuroretinopathyK Huoponen, V Juvonen, A Iitiä, et al.European Journal of Human Genetics : EJHG|December 31, 1997
mtDNA haplotype analysis in Finnish families with leber hereditary optic neuroretinopathyT Lamminen, K Huoponen, P Sistonen, et al.Journal of Inherited Metabolic Disease|January 1, 1993
Applications of a new fluorimetric enzyme assay for the diagnosis of aspartylglucosaminuriaVoznyi YaV, J L Keulemans, W J Kleijer, et al.Neurology|May 20, 1999
A new metabolite contributing to N-acetyl signal in 1H MRS of the brain in Salla diseaseT Varho, M Komu, P Sonninen, et al.European Journal of Human Genetics : EJHG|August 10, 1999
Deletion including the oligophrenin-1 gene associated with enlarged cerebral ventricles, cerebellar hypoplasia, seizures and ataxiaD Tentler, P Gustavsson, J Leisti, et al.Human Genetics|September 15, 2000
Rapid FMR1-protein analysis of fetal blood: an enhancement of prenatal diagnosticsN Lambiris, H Peters, R Bollmann, et al.British Journal of Obstetrics and Gynaecology|April 1, 1981
Measurement of placental protein 5, placental lactogen and pregnancy-specific beta 1 glycoprotein in mid-trimester as a predictor of outcome of pregnancyH T Salem, J N Lee, M Seppälä, et al.Clinical Genetics|March 1, 1997
Two novel mutations in a Canadian family with aspartylglucosaminuria and early outcome post bone marrow transplantationA Laitinen, M Hietala, J C Haworth, et al.Pageof 17