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T Fukao

Showing results (121-130 of 139) with videos related to

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Human Mutation|February 6, 1998
Novel exonic mutation (5319 G to A) resulting in two aberrantly spliced transcripts of the ATM gene in a Japanese patient with ataxia-telangiectasiaT Fukao, H Tashita, T Teramoto, et al.
Clinical Genetics|August 25, 2004
Identification of somatic and germline mosaicism for a keratin 5 mutation in epidermolysis bullosa simplex in a family of which the proband was previously regarded as a sporadic caseM Nagao-Watanabe, T Fukao, E Matsui, et al.
Human Mutation|September 23, 1998
Characterization of N93S, I312T, and A333P missense mutations in two Japanese families with mitochondrial acetoacetyl-CoA thiolase deficiencyT Fukao, H Nakamura, X Q Song, et al.
Clinical Genetics|October 1, 1996
Life-threatening cardiac involvement throughout life in a case of Costello syndromeT Fukao, S Sakai, N Shimozawa, et al.
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.
Journal of Inherited Metabolic Disease|October 2, 2003
The mitochondrial acetoacetyl-CoA thiolase (T2) deficiency in Japanese patients: urinary organic acid and blood acylcarnitine profiles under stable conditions have subtle abnormalities in T2-deficient patients with some residual T2 activityT Fukao, G X Zhang, N Sakura, et al.
Genomics|June 1, 1994
A physical map across chromosome 11q22-q23 containing the major locus for ataxia telangiectasiaH J Ambrose, P J Byrd, C M McConville, et al.
Blood|September 9, 1999
ATM is upregulated during the mitogenic response in peripheral blood mononuclear cellsT Fukao, H Kaneko, G Birrell, 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|September 1, 1996
Succinyl CoA: 3-oxoacid CoA transferase (SCOT): human cDNA cloning, human chromosomal mapping to 5p13, and mutation detection in a SCOT-deficient patientS Kassovska-Bratinova, T Fukao, X Q Song, et al.
Pageof 14

Showing results (121-130 of 139) with videos related to

Sort By:
Pageof 14
Human Mutation|February 6, 1998
Novel exonic mutation (5319 G to A) resulting in two aberrantly spliced transcripts of the ATM gene in a Japanese patient with ataxia-telangiectasiaT Fukao, H Tashita, T Teramoto, et al.
Clinical Genetics|August 25, 2004
Identification of somatic and germline mosaicism for a keratin 5 mutation in epidermolysis bullosa simplex in a family of which the proband was previously regarded as a sporadic caseM Nagao-Watanabe, T Fukao, E Matsui, et al.
Human Mutation|September 23, 1998
Characterization of N93S, I312T, and A333P missense mutations in two Japanese families with mitochondrial acetoacetyl-CoA thiolase deficiencyT Fukao, H Nakamura, X Q Song, et al.
Clinical Genetics|October 1, 1996
Life-threatening cardiac involvement throughout life in a case of Costello syndromeT Fukao, S Sakai, N Shimozawa, et al.
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.
Journal of Inherited Metabolic Disease|October 2, 2003
The mitochondrial acetoacetyl-CoA thiolase (T2) deficiency in Japanese patients: urinary organic acid and blood acylcarnitine profiles under stable conditions have subtle abnormalities in T2-deficient patients with some residual T2 activityT Fukao, G X Zhang, N Sakura, et al.
Genomics|June 1, 1994
A physical map across chromosome 11q22-q23 containing the major locus for ataxia telangiectasiaH J Ambrose, P J Byrd, C M McConville, et al.
Blood|September 9, 1999
ATM is upregulated during the mitogenic response in peripheral blood mononuclear cellsT Fukao, H Kaneko, G Birrell, 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|September 1, 1996
Succinyl CoA: 3-oxoacid CoA transferase (SCOT): human cDNA cloning, human chromosomal mapping to 5p13, and mutation detection in a SCOT-deficient patientS Kassovska-Bratinova, T Fukao, X Q Song, et al.
Pageof 14