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Showing results (141-150 of 161) with videos related to

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The EMBO Journal|January 1, 1991
Aspartylglucosaminuria: cDNA encoding human aspartylglucosaminidase and the missense mutation causing the diseaseE Ikonen, M Baumann, K Grön, et al.
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.
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.
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.
Hereditas|June 12, 1999
Characterization of the lysinuric protein intolerance (LPI) region within T-cell receptor alpha/delta gene cluster on chromosome site 14q11T Lauteala, J Mykkänen, N Horelli-Kuitunen, et al.
Neuropediatrics|October 1, 1994
Phenotypic variation and magnetic resonance imaging (MRI) in Salla disease, a free sialic acid storage disorderL Haataja, R Parkkola, P Sonninen, et al.
European Journal of Human Genetics : EJHG|January 15, 1999
Genetic homogeneity of lysinuric protein intoleranceT Lauteala, J Mykkänen, M P Sperandeo, et al.
American Journal of Human Genetics|June 1, 1994
The genetic locus for free sialic acid storage disease maps to the long arm of chromosome 6L Haataja, J Schleutker, A P Laine, et al.
Pageof 17

Showing results (141-150 of 161) with videos related to

Sort By:
Pageof 17
The EMBO Journal|January 1, 1991
Aspartylglucosaminuria: cDNA encoding human aspartylglucosaminidase and the missense mutation causing the diseaseE Ikonen, M Baumann, K Grön, et al.
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.
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.
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.
Hereditas|June 12, 1999
Characterization of the lysinuric protein intolerance (LPI) region within T-cell receptor alpha/delta gene cluster on chromosome site 14q11T Lauteala, J Mykkänen, N Horelli-Kuitunen, et al.
Neuropediatrics|October 1, 1994
Phenotypic variation and magnetic resonance imaging (MRI) in Salla disease, a free sialic acid storage disorderL Haataja, R Parkkola, P Sonninen, et al.
European Journal of Human Genetics : EJHG|January 15, 1999
Genetic homogeneity of lysinuric protein intoleranceT Lauteala, J Mykkänen, M P Sperandeo, et al.
American Journal of Human Genetics|June 1, 1994
The genetic locus for free sialic acid storage disease maps to the long arm of chromosome 6L Haataja, J Schleutker, A P Laine, et al.
Pageof 17