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S Kure

Showing results (61-70 of 85) with videos related to

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Biochemical and Biophysical Research Communications|July 24, 1998
Molecular analysis of glycogen storage disease type Ib: identification of a prevalent mutation among Japanese patients and assignment of a putative glucose-6-phosphate translocase gene to chromosome 11S Kure, Y Suzuki, Y Matsubara, et al.
The Journal of Clinical Endocrinology and Metabolism|December 1, 1996
Association of a mutation in thiazide-sensitive Na-Cl cotransporter with familial Gitelman's syndromeK Takeuchi, S Kure, T Kato, et al.
Journal of Human Genetics|July 14, 2001
Chromosomal localization, structure, single-nucleotide polymorphisms, and expression of the human H-protein gene of the glycine cleavage system (GCSH), a candidate gene for nonketotic hyperglycinemiaS Kure, K Kojima, T Kudo, et al.
Human Genetics|May 26, 1998
A missense mutation (His42Arg) in the T-protein gene from a large Israeli-Arab kindred with nonketotic hyperglycinemiaS Kure, H Mandel, M O Rolland, et al.
Journal of Human Genetics|February 24, 2001
Haplotype analysis suggests that the two predominant mutations in Japanese patients with holocarboxylase synthetase deficiency are founder mutationsX Yang, Y Aoki, X Li, et al.
The Journal of Pediatrics|September 15, 1999
Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiencyS Kure, D C Hou, T Ohura, et al.
The Journal of Pediatrics|August 10, 2000
Glycogen storage disease type Ib without neutropeniaS Kure, D C Hou, Y Suzuki, et al.
Human Mutation|May 26, 1998
Two CPT2 mutations in three Japanese patients with carnitine palmitoyltransferase II deficiency: functional analysis and association with polymorphic haplotypes and two clinical phenotypesK Wataya, J Akanuma, P Cavadini, et al.
Journal of Child Neurology|December 11, 1999
Increased cerebrospinal fluid glycine: a biochemical marker for a leukoencephalopathy with vanishing white matterM S van der Knaap, R A Wevers, S Kure, et al.
Human Mutation|January 29, 2000
Mutation detection by TaqMan-allele specific amplification: application to molecular diagnosis of glycogen storage disease type Ia and medium-chain acyl-CoA dehydrogenase deficiencyK Fujii, Y Matsubara, J Akanuma, et al.
Pageof 9

Showing results (61-70 of 85) with videos related to

Sort By:
Pageof 9
Biochemical and Biophysical Research Communications|July 24, 1998
Molecular analysis of glycogen storage disease type Ib: identification of a prevalent mutation among Japanese patients and assignment of a putative glucose-6-phosphate translocase gene to chromosome 11S Kure, Y Suzuki, Y Matsubara, et al.
The Journal of Clinical Endocrinology and Metabolism|December 1, 1996
Association of a mutation in thiazide-sensitive Na-Cl cotransporter with familial Gitelman's syndromeK Takeuchi, S Kure, T Kato, et al.
Journal of Human Genetics|July 14, 2001
Chromosomal localization, structure, single-nucleotide polymorphisms, and expression of the human H-protein gene of the glycine cleavage system (GCSH), a candidate gene for nonketotic hyperglycinemiaS Kure, K Kojima, T Kudo, et al.
Human Genetics|May 26, 1998
A missense mutation (His42Arg) in the T-protein gene from a large Israeli-Arab kindred with nonketotic hyperglycinemiaS Kure, H Mandel, M O Rolland, et al.
Journal of Human Genetics|February 24, 2001
Haplotype analysis suggests that the two predominant mutations in Japanese patients with holocarboxylase synthetase deficiency are founder mutationsX Yang, Y Aoki, X Li, et al.
The Journal of Pediatrics|September 15, 1999
Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiencyS Kure, D C Hou, T Ohura, et al.
The Journal of Pediatrics|August 10, 2000
Glycogen storage disease type Ib without neutropeniaS Kure, D C Hou, Y Suzuki, et al.
Human Mutation|May 26, 1998
Two CPT2 mutations in three Japanese patients with carnitine palmitoyltransferase II deficiency: functional analysis and association with polymorphic haplotypes and two clinical phenotypesK Wataya, J Akanuma, P Cavadini, et al.
Journal of Child Neurology|December 11, 1999
Increased cerebrospinal fluid glycine: a biochemical marker for a leukoencephalopathy with vanishing white matterM S van der Knaap, R A Wevers, S Kure, et al.
Human Mutation|January 29, 2000
Mutation detection by TaqMan-allele specific amplification: application to molecular diagnosis of glycogen storage disease type Ia and medium-chain acyl-CoA dehydrogenase deficiencyK Fujii, Y Matsubara, J Akanuma, et al.
Pageof 9