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I Matsuda

Human genetics

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Human Genetics|July 29, 2000

Statistical and mutational analysis of chronic granulomatous disease in Japan with special reference to gp91-phox and p22-phox deficiencyF Ishibashi, H Nunoi, F Endo, et al.

Human Genetics|September 1, 1988

Maple syrup urine disease: a possible biochemical basis for the clinical heterogeneityY Indo, I Akaboshi, Y Nobukuni, et al.

Human Genetics|September 12, 2000

Mutation and polymorphism analysis of the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor in congenital insensitivity to pain with anhidrosis (CIPA) familiesY Miura, S Mardy, Y Awaya, et al.

Human Genetics|February 1, 1994

Expression of four mutant human ornithine transcarbamylase genes in cultured Cos 1 cells relates to clinical phenotypesT Matsuura, R Hoshide, C Setoyama, et al.

Human Genetics|November 9, 2000

Complete paternal uniparental isodisomy for chromosome 1 revealed by mutation analyses of the TRKA (NTRK1) gene encoding a receptor tyrosine kinase for nerve growth factor in a patient with congenital insensitivity to pain with anhidrosisY Miura, M Hiura, K Torigoe, et al.

Human Genetics|January 1, 1984

Complementation analysis in lymphoid cells from five patients with different forms of maple syrup urine diseaseY Jinno, I Akaboshi, I Matsuda

Human Genetics|January 1, 1984

Study on established lymphoid cells in maple syrup urine disease. Correlation with clinical heterogeneityY Jinno, I Akaboshi, T Katsuki, et al.

Human Genetics|June 9, 1978

Familial occurrence of a syndrome with mental retardation, nasal hypoplasia, peripheral dysostosis, and blue eyes in Japanese siblingsN Niikawa, I Matsuda, T Ohsawa, et al.

Human Genetics|May 19, 1976

Tricho-rhino-phalangeal syndrome. The first case in JapanN Fukushima, M Anakura, S Arashima, et al.

Human Genetics|January 1, 1985

The infantile form of sialidosis type II associated with congenital adrenal hyperplasia: possible linkage between HLA and the neuraminidase deficiency geneT Oohira, N Nagata, I Akaboshi, et al.

Pageof 2

Search research articles

Showing results (1-10 of 20) with videos related to

Sort By:

Pageof 2

Human Genetics|July 29, 2000

Statistical and mutational analysis of chronic granulomatous disease in Japan with special reference to gp91-phox and p22-phox deficiencyF Ishibashi, H Nunoi, F Endo, et al.

Human Genetics|September 1, 1988

Maple syrup urine disease: a possible biochemical basis for the clinical heterogeneityY Indo, I Akaboshi, Y Nobukuni, et al.

Human Genetics|September 12, 2000

Mutation and polymorphism analysis of the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor in congenital insensitivity to pain with anhidrosis (CIPA) familiesY Miura, S Mardy, Y Awaya, et al.

Human Genetics|February 1, 1994

Expression of four mutant human ornithine transcarbamylase genes in cultured Cos 1 cells relates to clinical phenotypesT Matsuura, R Hoshide, C Setoyama, et al.

Human Genetics|November 9, 2000

Complete paternal uniparental isodisomy for chromosome 1 revealed by mutation analyses of the TRKA (NTRK1) gene encoding a receptor tyrosine kinase for nerve growth factor in a patient with congenital insensitivity to pain with anhidrosisY Miura, M Hiura, K Torigoe, et al.

Human Genetics|January 1, 1984

Complementation analysis in lymphoid cells from five patients with different forms of maple syrup urine diseaseY Jinno, I Akaboshi, I Matsuda

Human Genetics|January 1, 1984

Study on established lymphoid cells in maple syrup urine disease. Correlation with clinical heterogeneityY Jinno, I Akaboshi, T Katsuki, et al.

Human Genetics|June 9, 1978

Familial occurrence of a syndrome with mental retardation, nasal hypoplasia, peripheral dysostosis, and blue eyes in Japanese siblingsN Niikawa, I Matsuda, T Ohsawa, et al.

Human Genetics|May 19, 1976

Tricho-rhino-phalangeal syndrome. The first case in JapanN Fukushima, M Anakura, S Arashima, et al.

Human Genetics|January 1, 1985

The infantile form of sialidosis type II associated with congenital adrenal hyperplasia: possible linkage between HLA and the neuraminidase deficiency geneT Oohira, N Nagata, I Akaboshi, et al.

Pageof 2