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Human Mutation
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February 6, 1998
Mutational analyses of AVPR2 gene in three Japanese families with X-linked nephrogenic diabetes insipidus: two recurrent mutations, R137H and deltaV278, caused by the hypermutability at CpG dinucleotides
Y Shoji, T Takahashi, Y Suzuki, et al.
Nature Genetics
|
September 1, 1993
Charcot-Marie-Tooth neuropathy type 1B is associated with mutations of the myelin P0 gene
K Hayasaka, M Himoro, W Sato, et al.
Human Genetics
|
December 18, 1998
Evidence of an increased risk of hearing loss in heterozygous carriers in a Wolfram syndrome family
T Ohata, A Koizumi, T Kayo, et al.
The Tohoku Journal of Experimental Medicine
|
May 1, 1999
Enzyme therapy in Gaucher disease type 2: an autopsy case
T Takahashi, Y Yoshida, W Sato, et al.
Pediatrics International : Official Journal of the Japan Pediatric Society
|
August 24, 1999
Mass screening for Wilson's disease: results and recommendations
Y Yamaguchi, T Aoki, S Arashima, et al.
Human Mutation
|
September 12, 2000
A cluster of lysinuric protein intolerance (LPI) patients in a northern part of Iwate, Japan due to a founder effect. The Mass Screening Group
A Koizumi, Y Shoji, J Nozaki, et al.
British Journal of Haematology
|
August 6, 2000
Restricted usage of T-cell receptor alpha-chain variable region (TCRAV) and T-cell receptor beta-chain variable region (TCRBV) repertoires after human allogeneic haematopoietic transplantation
T Matsutani, T Yoshioka, Y Tsuruta, et al.
Transplantation Proceedings
|
March 27, 2001
Role of local renin-angiotensin system in warm ischemia and reperfusion injury of the liver
G Takada, M B Jin, H Masuko, et al.
Human Mutation
|
March 29, 2000
SLC7A7 genomic structure and novel variants in three Japanese lysinuric protein intolerance families
A Noguchi, Y Shoji, A Koizumi, et al.
Human Molecular Genetics
|
November 5, 1999
Genetic epidemiology of the carnitine transporter OCTN2 gene in a Japanese population and phenotypic characterization in Japanese pedigrees with primary systemic carnitine deficiency
A Koizumi, J Nozaki, T Ohura, et al.
Page
of 21
Search research articles
Search
Showing results (191-200 of 201) with videos related to
Sort By:
Page
of 21
Human Mutation
|
February 6, 1998
Mutational analyses of AVPR2 gene in three Japanese families with X-linked nephrogenic diabetes insipidus: two recurrent mutations, R137H and deltaV278, caused by the hypermutability at CpG dinucleotides
Y Shoji, T Takahashi, Y Suzuki, et al.
Nature Genetics
|
September 1, 1993
Charcot-Marie-Tooth neuropathy type 1B is associated with mutations of the myelin P0 gene
K Hayasaka, M Himoro, W Sato, et al.
Human Genetics
|
December 18, 1998
Evidence of an increased risk of hearing loss in heterozygous carriers in a Wolfram syndrome family
T Ohata, A Koizumi, T Kayo, et al.
The Tohoku Journal of Experimental Medicine
|
May 1, 1999
Enzyme therapy in Gaucher disease type 2: an autopsy case
T Takahashi, Y Yoshida, W Sato, et al.
Pediatrics International : Official Journal of the Japan Pediatric Society
|
August 24, 1999
Mass screening for Wilson's disease: results and recommendations
Y Yamaguchi, T Aoki, S Arashima, et al.
Human Mutation
|
September 12, 2000
A cluster of lysinuric protein intolerance (LPI) patients in a northern part of Iwate, Japan due to a founder effect. The Mass Screening Group
A Koizumi, Y Shoji, J Nozaki, et al.
British Journal of Haematology
|
August 6, 2000
Restricted usage of T-cell receptor alpha-chain variable region (TCRAV) and T-cell receptor beta-chain variable region (TCRBV) repertoires after human allogeneic haematopoietic transplantation
T Matsutani, T Yoshioka, Y Tsuruta, et al.
Transplantation Proceedings
|
March 27, 2001
Role of local renin-angiotensin system in warm ischemia and reperfusion injury of the liver
G Takada, M B Jin, H Masuko, et al.
Human Mutation
|
March 29, 2000
SLC7A7 genomic structure and novel variants in three Japanese lysinuric protein intolerance families
A Noguchi, Y Shoji, A Koizumi, et al.
Human Molecular Genetics
|
November 5, 1999
Genetic epidemiology of the carnitine transporter OCTN2 gene in a Japanese population and phenotypic characterization in Japanese pedigrees with primary systemic carnitine deficiency
A Koizumi, J Nozaki, T Ohura, et al.
Page
of 21