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J E Wraith

Showing results (91-100 of 115) with videos related to

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Human Molecular Genetics|April 1, 1995
Mucopolysaccharidosis type IVA: identification of six novel mutations among non-Japanese patientsS Tomatsu, S Fukuda, A Cooper, et al.
American Journal of Human Genetics|September 1, 1995
Mucopolysaccharidosis IVA: identification of a common missense mutation I113F in the N-Acetylgalactosamine-6-sulfate sulfatase geneS Tomatsu, S Fukuda, A Cooper, et al.
Plos One|October 27, 2011
Female mucopolysaccharidosis IIIA mice exhibit hyperactivity and a reduced sense of danger in the open field testAlex Langford-Smith, Kia J Langford-Smith, Simon A Jones, et al.
Neurology|April 21, 2012
Development of a suspicion index to aid diagnosis of Niemann-Pick disease type CF A Wijburg, F Sedel, M Pineda, et al.
The Journal of Pediatrics|October 1, 1988
Rhizomelic chondrodysplasia punctata: clinical, pathologic, and biochemical findings in two patientsA Poulos, L Sheffield, P Sharp, et al.
European Journal of Pediatrics|March 1, 1992
Combined deficiencies of the pyruvate dehydrogenase complex and enzymes of the respiratory chain in mitochondrial myopathiesW Sperl, W Ruitenbeek, R C Sengers, et al.
Journal of Inherited Metabolic Disease|January 1, 1993
Long-term clinical progress in bone marrow transplanted mucopolysaccharidosis type I patients with a defined genotypeJ J Hopwood, A Vellodi, H S Scott, et al.
Genes, Brain, and Behavior|June 4, 2011
Hyperactive behaviour in the mouse model of mucopolysaccharidosis IIIB in the open field and home cage environmentsA Langford-Smith, M Malinowska, K J Langford-Smith, et al.
Human Mutation|February 6, 1998
Fifteen polymorphisms in the N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene: diagnostic implications in Morquio diseaseS Tomatsu, S Fukuda, A Cooper, et al.
Nature Genetics|November 5, 1997
Refsum disease is caused by mutations in the phytanoyl-CoA hydroxylase geneG A Jansen, R Ofman, S Ferdinandusse, et al.
Pageof 12

Showing results (91-100 of 115) with videos related to

Sort By:
Pageof 12
Human Molecular Genetics|April 1, 1995
Mucopolysaccharidosis type IVA: identification of six novel mutations among non-Japanese patientsS Tomatsu, S Fukuda, A Cooper, et al.
American Journal of Human Genetics|September 1, 1995
Mucopolysaccharidosis IVA: identification of a common missense mutation I113F in the N-Acetylgalactosamine-6-sulfate sulfatase geneS Tomatsu, S Fukuda, A Cooper, et al.
Plos One|October 27, 2011
Female mucopolysaccharidosis IIIA mice exhibit hyperactivity and a reduced sense of danger in the open field testAlex Langford-Smith, Kia J Langford-Smith, Simon A Jones, et al.
Neurology|April 21, 2012
Development of a suspicion index to aid diagnosis of Niemann-Pick disease type CF A Wijburg, F Sedel, M Pineda, et al.
The Journal of Pediatrics|October 1, 1988
Rhizomelic chondrodysplasia punctata: clinical, pathologic, and biochemical findings in two patientsA Poulos, L Sheffield, P Sharp, et al.
European Journal of Pediatrics|March 1, 1992
Combined deficiencies of the pyruvate dehydrogenase complex and enzymes of the respiratory chain in mitochondrial myopathiesW Sperl, W Ruitenbeek, R C Sengers, et al.
Journal of Inherited Metabolic Disease|January 1, 1993
Long-term clinical progress in bone marrow transplanted mucopolysaccharidosis type I patients with a defined genotypeJ J Hopwood, A Vellodi, H S Scott, et al.
Genes, Brain, and Behavior|June 4, 2011
Hyperactive behaviour in the mouse model of mucopolysaccharidosis IIIB in the open field and home cage environmentsA Langford-Smith, M Malinowska, K J Langford-Smith, et al.
Human Mutation|February 6, 1998
Fifteen polymorphisms in the N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene: diagnostic implications in Morquio diseaseS Tomatsu, S Fukuda, A Cooper, et al.
Nature Genetics|November 5, 1997
Refsum disease is caused by mutations in the phytanoyl-CoA hydroxylase geneG A Jansen, R Ofman, S Ferdinandusse, et al.
Pageof 12