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Results: 1-10 |
Results: 10
HLA DPB10201 gene confers disease susceptibility in Japanese with childhood onset Type I diabetes, independent of HLA-DR and DQ genotypes
Authors: Nishimaki, K Kawamura, T Inada, H Yagawa, K Nose, Y Nabeya, N Isshiki, G Tatsumi, N Niihira, S
Citation: K. Nishimaki et al., HLA DPB10201 gene confers disease susceptibility in Japanese with childhood onset Type I diabetes, independent of HLA-DR and DQ genotypes, DIABET RE C, 47(1), 2000, pp. 49-55
Quantitative Beutler test for newborn mass screening of galactosemia usinga fluorometric microplate reader
Authors: Fujimoto, A Okano, Y Miyagi, T Isshiki, G Oura, T
Citation: A. Fujimoto et al., Quantitative Beutler test for newborn mass screening of galactosemia usinga fluorometric microplate reader, CLIN CHEM, 46(6), 2000, pp. 806-810
Molecular characterization of galactokinase deficiency in Japanese patients
Authors: Asada, M Okano, Y Imamura, T Suyama, I Hase, Y Isshiki, G
Citation: M. Asada et al., Molecular characterization of galactokinase deficiency in Japanese patients, J HUM GENET, 44(6), 1999, pp. 377-382
Molecular characterization of 6-pyruvoyl-tetrahydropterin synthase deficiency in Japanese patients
Authors: Imamura, T Okano, Y Shintaku, H Hase, Y Isshiki, G
Citation: T. Imamura et al., Molecular characterization of 6-pyruvoyl-tetrahydropterin synthase deficiency in Japanese patients, J HUM GENET, 44(3), 1999, pp. 163-168
Novel mutations including the second most common in Japan, in the beta-hexosaminidase alpha subunit gene, and a simple screening of Japanese patientswith Tay-Sachs disease
Authors: Tanaka, A Fujimaru, M Choeh, K Isshiki, G
Citation: A. Tanaka et al., Novel mutations including the second most common in Japan, in the beta-hexosaminidase alpha subunit gene, and a simple screening of Japanese patientswith Tay-Sachs disease, J HUM GENET, 44(2), 1999, pp. 91-95
Molecular basis for phenotypic heterogeneity in galactosaemia: prediction of clinical phenotype from genotype in Japanese patients
Authors: Hirokawa, H Okano, Y Asada, M Fujimoto, A Suyama, I Isshiki, G
Citation: H. Hirokawa et al., Molecular basis for phenotypic heterogeneity in galactosaemia: prediction of clinical phenotype from genotype in Japanese patients, EUR J HUM G, 7(7), 1999, pp. 757-764
Neopterin and biopterin concentrations in cerebrospinal fluid in controls less than 1 year old
Authors: Sawada, Y Shintaku, H Isshiki, G
Citation: Y. Sawada et al., Neopterin and biopterin concentrations in cerebrospinal fluid in controls less than 1 year old, BRAIN DEVEL, 21(4), 1999, pp. 264-267
Limited polymorphism in the HLA-DOA gene
Authors: Naruse, TK Kawata, H Anzai, T Takashige, N Kagiya, M Nose, Y Nabeya, N Isshiki, G Tatsumi, N Inoko, H
Citation: Tk. Naruse et al., Limited polymorphism in the HLA-DOA gene, TISSUE ANTI, 53(4), 1999, pp. 359-365
Molecular characterization of phenylketonuria in Japanese patients
Authors: Okano, Y Asada, M Kang, Y Nishi, Y Hase, Y Oura, T Isshiki, G
Citation: Y. Okano et al., Molecular characterization of phenylketonuria in Japanese patients, HUM GENET, 103(5), 1998, pp. 613-618
Two mutations remote from an exon/intron junction in the beta-hexosaminidase beta-subunit gene affect 3 '-splice site selection and cause Sandhoff disease
Authors: Fujimaru, M Tanaka, A Choeh, K Wakamatsu, N Sakuraba, H Isshiki, G
Citation: M. Fujimaru et al., Two mutations remote from an exon/intron junction in the beta-hexosaminidase beta-subunit gene affect 3 '-splice site selection and cause Sandhoff disease, HUM GENET, 103(4), 1998, pp. 462-469
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