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Showing results (261-270 of 276) with videos related to

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Human Mutation|January 1, 1997
Hunter disease in a girl caused by R468Q mutation in the iduronate-2-sulfatase gene and skewed inactivation of the X chromosome carrying the normal alleleK Sukegawa, X Q Song, M Masuno, et al.
American Journal of Medical Genetics|June 28, 1996
Heteroallelic missense mutations of the galactosamine-6-sulfate sulfatase (GALNS) gene in a mild form of Morquio disease (MPS IVA)D E Cole, S Fukuda, B A Gordon, et al.
Human Molecular Genetics|May 20, 1999
Nonsense and temperature-sensitive mutations in PEX13 are the cause of complementation group H of peroxisome biogenesis disordersN Shimozawa, Y Suzuki, Z Zhang, et al.
Human Genetics|January 7, 1998
A novel common missense mutation G301C in the N-acetylgalactosamine-6-sulfate sulfatase gene in mucopolysaccharidosis IVAZ Kato, S Fukuda, S Tomatsu, et al.
Biochemical and Biophysical Research Communications|March 3, 1998
Peroxisome biogenesis disorders: identification of a new complementation group distinct from peroxisome-deficient CHO mutants and not complemented by human PEX 13N Shimozawa, Y Suzuki, Z Zhang, et al.
American Journal of Human Genetics|December 1, 1996
Human peroxisome assembly factor-2 (PAF-2): a gene responsible for group C peroxisome biogenesis disorder in humansS Fukuda, N Shimozawa, Y Suzuki, et al.
Biochimica Et Biophysica Acta|April 12, 1997
Succinyl-CoA:3-ketoacid coenzyme A transferase (SCOT): development of an antibody to human SCOT and diagnostic use in hereditary SCOT deficiencyX Q Song, T Fukao, G A Mitchell, et al.
American Journal of Human Genetics|May 1, 1996
Mucopolysaccharidosis IVA: four new exonic mutations in patients with N-acetylgalactosamine-6-sulfate sulfatase deficiencyS Tomatsu, S Fukuda, A Yamagishi, et al.
Human Mutation|January 1, 1996
Mucopolysaccharidosis IVA: submicroscopic deletion of 16q24.3 and a novel R386C mutation of N-acetylgalactosamine-6-sulfate sulfatase gene in a classical Morquio diseaseS Fukuda, S Tomatsu, M Masuno, et al.
Journal of Inherited Metabolic Disease|January 1, 1996
Mucopolysaccharidosis IVA: a comparative study of polymorphic DNA haplotypes in the Caucasian and Japanese populationsG M Rezvi, S Tomatsu, S Fukuda, et al.
Pageof 28

Showing results (261-270 of 276) with videos related to

Sort By:
Pageof 28
Human Mutation|January 1, 1997
Hunter disease in a girl caused by R468Q mutation in the iduronate-2-sulfatase gene and skewed inactivation of the X chromosome carrying the normal alleleK Sukegawa, X Q Song, M Masuno, et al.
American Journal of Medical Genetics|June 28, 1996
Heteroallelic missense mutations of the galactosamine-6-sulfate sulfatase (GALNS) gene in a mild form of Morquio disease (MPS IVA)D E Cole, S Fukuda, B A Gordon, et al.
Human Molecular Genetics|May 20, 1999
Nonsense and temperature-sensitive mutations in PEX13 are the cause of complementation group H of peroxisome biogenesis disordersN Shimozawa, Y Suzuki, Z Zhang, et al.
Human Genetics|January 7, 1998
A novel common missense mutation G301C in the N-acetylgalactosamine-6-sulfate sulfatase gene in mucopolysaccharidosis IVAZ Kato, S Fukuda, S Tomatsu, et al.
Biochemical and Biophysical Research Communications|March 3, 1998
Peroxisome biogenesis disorders: identification of a new complementation group distinct from peroxisome-deficient CHO mutants and not complemented by human PEX 13N Shimozawa, Y Suzuki, Z Zhang, et al.
American Journal of Human Genetics|December 1, 1996
Human peroxisome assembly factor-2 (PAF-2): a gene responsible for group C peroxisome biogenesis disorder in humansS Fukuda, N Shimozawa, Y Suzuki, et al.
Biochimica Et Biophysica Acta|April 12, 1997
Succinyl-CoA:3-ketoacid coenzyme A transferase (SCOT): development of an antibody to human SCOT and diagnostic use in hereditary SCOT deficiencyX Q Song, T Fukao, G A Mitchell, et al.
American Journal of Human Genetics|May 1, 1996
Mucopolysaccharidosis IVA: four new exonic mutations in patients with N-acetylgalactosamine-6-sulfate sulfatase deficiencyS Tomatsu, S Fukuda, A Yamagishi, et al.
Human Mutation|January 1, 1996
Mucopolysaccharidosis IVA: submicroscopic deletion of 16q24.3 and a novel R386C mutation of N-acetylgalactosamine-6-sulfate sulfatase gene in a classical Morquio diseaseS Fukuda, S Tomatsu, M Masuno, et al.
Journal of Inherited Metabolic Disease|January 1, 1996
Mucopolysaccharidosis IVA: a comparative study of polymorphic DNA haplotypes in the Caucasian and Japanese populationsG M Rezvi, S Tomatsu, S Fukuda, et al.
Pageof 28