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Results: 1-11 |
Results: 11
Novel nonsense mutation in the Na+/HCO3- cotransporter gene (SLC4A4) in a patient with permanent isolated proximal renal tubular acidosis and bilateral glaucoma
Authors: Igarashi, T Inatomi, J Sekine, T Seki, G Shimadzu, M Tozawa, F Takeshima, Y Takumi, T Takahashi, T Yoshikawa, N Nakamura, H Endou, H
Citation: T. Igarashi et al., Novel nonsense mutation in the Na+/HCO3- cotransporter gene (SLC4A4) in a patient with permanent isolated proximal renal tubular acidosis and bilateral glaucoma, J AM S NEPH, 12(4), 2001, pp. 713-718
Dope-responsive dystonia simulating spastic paraplegia due to tyrosine hydroxylase (TH) gene mutations
Authors: Furukawa, Y Graf, WD Wong, H Shimadzu, M Kish, SJ
Citation: Y. Furukawa et al., Dope-responsive dystonia simulating spastic paraplegia due to tyrosine hydroxylase (TH) gene mutations, NEUROLOGY, 56(2), 2001, pp. 260-263
Familial pulmonary Mycobacterium avium complex disease
Authors: Tanaka, E Kimoto, T Matsumoto, H Tsuyuguchi, K Suzuki, K Nagai, S Shimadzu, M Ishibatake, H Murayama, T Amitani, R
Citation: E. Tanaka et al., Familial pulmonary Mycobacterium avium complex disease, AM J R CRIT, 161(5), 2000, pp. 1643-1647
Mutations of the WASP gene in 10 Japanese patients with Wiskott-Aldrich syndrome and X-linked thrombocytopenia
Authors: Itoh, S Nonoyama, S Morio, T Imai, K Okawa, H Ochs, HD Shimadzu, M Yata, J
Citation: S. Itoh et al., Mutations of the WASP gene in 10 Japanese patients with Wiskott-Aldrich syndrome and X-linked thrombocytopenia, INT J HEMAT, 71(1), 2000, pp. 79-83
Dopa-responsive dystonia due to a large deletion in the GTP cyclohydrolaseI gene
Authors: Furukawa, Y Guttman, M Sparagana, SP Trugman, JM Hyland, K Wyatt, P Lang, AE Rouleau, GA Shimadzu, M Kish, SJ
Citation: Y. Furukawa et al., Dopa-responsive dystonia due to a large deletion in the GTP cyclohydrolaseI gene, ANN NEUROL, 47(4), 2000, pp. 517-520
Comparison of gyrA and parC mutations and resistance levels among fluoroquinolone-resistant isolates and laboratory-derived mutants of oral streptococci
Authors: Kaneko, A Sasaki, J Shimadzu, M Kanayama, A Saika, T Kobayashi, I
Citation: A. Kaneko et al., Comparison of gyrA and parC mutations and resistance levels among fluoroquinolone-resistant isolates and laboratory-derived mutants of oral streptococci, J ANTIMICRO, 45(6), 2000, pp. 771-775
Clinical and genetic studies of CLCN5 mutations in Japanese families with Dent's disease
Authors: Igarashi, T Inatomi, J Ohara, T Kuwahara, T Shimadzu, M Thakker, RV
Citation: T. Igarashi et al., Clinical and genetic studies of CLCN5 mutations in Japanese families with Dent's disease, KIDNEY INT, 58(2), 2000, pp. 520-527
Mutations in SLC4A4 cause permanent isolated proximal renal tubular acidosis with ocular abnormalities
Authors: Igarashi, T Inatomi, J Sekine, T Cha, SH Kanai, Y Kunimi, M Tsukamoto, K Satoh, H Shimadzu, M Tozawa, F Mori, T Shiobara, M Seki, G Endou, H
Citation: T. Igarashi et al., Mutations in SLC4A4 cause permanent isolated proximal renal tubular acidosis with ocular abnormalities, NAT GENET, 23(3), 1999, pp. 264-266
A new assay for the analysis of X-chromosome inactivation based on methylation-specific PCR
Authors: Kubota, T Nonoyama, S Tonoki, H Masuno, M Imaizumi, K Kojima, M Wakui, K Shimadzu, M Fukushima, Y
Citation: T. Kubota et al., A new assay for the analysis of X-chromosome inactivation based on methylation-specific PCR, HUM GENET, 104(1), 1999, pp. 49-55
Striatal biopterin and tyrosine hydroxylase protein reduction in dopa-responsive dystonia
Authors: Furukawa, Y Nygaard, TG Gutlich, M Rajput, AH Pifl, C DiStefano, L Chang, LJ Price, K Shimadzu, M Hornykiewicz, O Haycock, JW Kish, SJ
Citation: Y. Furukawa et al., Striatal biopterin and tyrosine hydroxylase protein reduction in dopa-responsive dystonia, NEUROLOGY, 53(5), 1999, pp. 1032-1041
The polymorphic 43Thr bcl-2 protein confers relative resistance to autoimmunity: an analytical evaluation
Authors: Komaki, S Kohno, M Matsuura, N Shimadzu, M Adachi, N Hoshide, R Nishiyama, S Matsuda, I
Citation: S. Komaki et al., The polymorphic 43Thr bcl-2 protein confers relative resistance to autoimmunity: an analytical evaluation, HUM GENET, 103(4), 1998, pp. 435-440
Risultati: 1-11 |