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Genomics
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June 15, 1996
Comparative genome mapping of the ataxia-telangiectasia region in mouse, rat, and Syrian hamster
Y Matsuda, T Imai, T Shiomi, et al.
Journal of Investigational Allergology & Clinical Immunology
|
April 26, 2000
Immunoblot analysis for laboratory diagnosis of ataxia-telangiectasia: use of Epstein-Barr virus-transformed or phytohemagglutinin-stimulated lymphoblasts for detection of ATM protein
T Fukao, T Yoshida, H Kaneko, et al.
Human Mutation
|
May 2, 2000
Molecular basis of very long chain acyl-CoA dehydrogenase deficiency in three Israeli patients: identification of a complex mutant allele with P65L and K247Q mutations, the former being an exonic mutation causing exon 3 skipping
H Watanabe, K E Orii, T Fukao, et al.
Clinical Genetics
|
May 1, 1997
Two novel missense mutations in the ATP-binding domain of the adrenoleukodystrophy gene: immunoblotting and immunocytological study of two patients
A Imamura, Y Suzuki, X Q Song, et al.
Human Molecular Genetics
|
May 18, 2000
Biochemical and structural analysis of missense mutations in N-acetylgalactosamine-6-sulfate sulfatase causing mucopolysaccharidosis IVA phenotypes
K Sukegawa, H Nakamura, Z Kato, et al.
Progress in Clinical and Biological Research
|
January 1, 1990
3-Ketothiolase deficiency: molecular heterogeneity of the enzyme defect and cloning of the cDNA
S Yamaguchi, T Fukao, H Nagasawa, et al.
Pediatric Hematology and Oncology
|
October 23, 1998
Ataxia telangiectasia associated with B-cell lymphoma: the effect of a half-dose of the drugs administered according to the acute lymphoblastic leukemia standard risk protocol
Y Yamada, R Inoue, T Fukao, et al.
Clinical and Experimental Immunology
|
June 4, 2005
Leaky phenotype of X-linked agammaglobulinaemia in a Japanese family
H Kaneko, N Kawamoto, T Asano, et al.
Clinical Genetics
|
October 1, 1996
Mild form of beta-ketothiolase deficiency (mitochondrial acetoacetyl-CoA thiolase deficiency) in two Japanese siblings: identification of detectable residual activity and cross-reactive material in EB-transformed lymphocytes
T Fukao, A Kodama, N Aoyanagi, et al.
Biochemical and Biophysical Research Communications
|
December 6, 1997
BLM (the causative gene of Bloom syndrome) protein translocation into the nucleus by a nuclear localization signal
H Kaneko, K O Orii, E Matsui, et al.
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of 14
Search research articles
Search
Showing results (111-120 of 139) with videos related to
Sort By:
Page
of 14
Genomics
|
June 15, 1996
Comparative genome mapping of the ataxia-telangiectasia region in mouse, rat, and Syrian hamster
Y Matsuda, T Imai, T Shiomi, et al.
Journal of Investigational Allergology & Clinical Immunology
|
April 26, 2000
Immunoblot analysis for laboratory diagnosis of ataxia-telangiectasia: use of Epstein-Barr virus-transformed or phytohemagglutinin-stimulated lymphoblasts for detection of ATM protein
T Fukao, T Yoshida, H Kaneko, et al.
Human Mutation
|
May 2, 2000
Molecular basis of very long chain acyl-CoA dehydrogenase deficiency in three Israeli patients: identification of a complex mutant allele with P65L and K247Q mutations, the former being an exonic mutation causing exon 3 skipping
H Watanabe, K E Orii, T Fukao, et al.
Clinical Genetics
|
May 1, 1997
Two novel missense mutations in the ATP-binding domain of the adrenoleukodystrophy gene: immunoblotting and immunocytological study of two patients
A Imamura, Y Suzuki, X Q Song, et al.
Human Molecular Genetics
|
May 18, 2000
Biochemical and structural analysis of missense mutations in N-acetylgalactosamine-6-sulfate sulfatase causing mucopolysaccharidosis IVA phenotypes
K Sukegawa, H Nakamura, Z Kato, et al.
Progress in Clinical and Biological Research
|
January 1, 1990
3-Ketothiolase deficiency: molecular heterogeneity of the enzyme defect and cloning of the cDNA
S Yamaguchi, T Fukao, H Nagasawa, et al.
Pediatric Hematology and Oncology
|
October 23, 1998
Ataxia telangiectasia associated with B-cell lymphoma: the effect of a half-dose of the drugs administered according to the acute lymphoblastic leukemia standard risk protocol
Y Yamada, R Inoue, T Fukao, et al.
Clinical and Experimental Immunology
|
June 4, 2005
Leaky phenotype of X-linked agammaglobulinaemia in a Japanese family
H Kaneko, N Kawamoto, T Asano, et al.
Clinical Genetics
|
October 1, 1996
Mild form of beta-ketothiolase deficiency (mitochondrial acetoacetyl-CoA thiolase deficiency) in two Japanese siblings: identification of detectable residual activity and cross-reactive material in EB-transformed lymphocytes
T Fukao, A Kodama, N Aoyanagi, et al.
Biochemical and Biophysical Research Communications
|
December 6, 1997
BLM (the causative gene of Bloom syndrome) protein translocation into the nucleus by a nuclear localization signal
H Kaneko, K O Orii, E Matsui, et al.
Page
of 14