Results
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621.
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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. [electronic resource] by
- Fukao, T
- Kodama, A
- Aoyanagi, N
- Tsukino, R
- Uemura, S
- Song, X Q
- Watanebe, H
- Kuhara, T
- Matsumoto, I
- Orii, T
- Kondo, N
Producer: 19970326
In:
Clinical genetics vol. 50
Availability: No items available.
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622.
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BLM (the causative gene of Bloom syndrome) protein translocation into the nucleus by a nuclear localization signal. [electronic resource] by
- Kaneko, H
- Orii, K O
- Matsui, E
- Shimozawa, N
- Fukao, T
- Matsumoto, T
- Shimamoto, A
- Furuichi, Y
- Hayakawa, S
- Kasahara, K
- Kondo, N
Producer: 19971223
In:
Biochemical and biophysical research communications vol. 240
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623.
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Effect of 'attenuated' mutations in mucopolysaccharidosis IVA on molecular phenotypes of N-acetylgalactosamine-6-sulfate sulfatase. [electronic resource] by
- Montaño, A M
- Sukegawa, K
- Kato, Z
- Carrozzo, R
- Di Natale, P
- Christensen, E
- Orii, K O
- Orii, T
- Kondo, N
- Tomatsu, S
Producer: 20071025
In:
Journal of inherited metabolic disease vol. 30
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624.
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Characterization of N93S, I312T, and A333P missense mutations in two Japanese families with mitochondrial acetoacetyl-CoA thiolase deficiency. [electronic resource] by
- Fukao, T
- Nakamura, H
- Song, X Q
- Nakamura, K
- Orii, K E
- Kohno, Y
- Kano, M
- Yamaguchi, S
- Hashimoto, T
- Orii, T
- Kondo, N
Producer: 19981117
In:
Human mutation vol. 12
Availability: No items available.
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625.
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Clinical usefulness of the combination of T-wave alternans and late potentials for identifying high-risk patients with moderately or severely impaired left ventricular function. [electronic resource] by
- Kondo, N
- Ikeda, T
- Kawase, A
- Kumagai, K
- Sakata, T
- Takami, M
- Tezuka, N
- Nakae, T
- Noro, M
- Enjoji, Y
- Sugi, K
- Yamaguchi, T
Producer: 20020716
In:
Japanese circulation journal vol. 65
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626.
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Genetic mapping using microcell-mediated chromosome transfer suggests a locus for Nijmegen breakage syndrome at chromosome 8q21-24. [electronic resource] by
- Matsuura, S
- Weemaes, C
- Smeets, D
- Takami, H
- Kondo, N
- Sakamoto, S
- Yano, N
- Nakamura, A
- Tauchi, H
- Endo, S
- Oshimura, M
- Komatsu, K
Producer: 19970710
In:
American journal of human genetics vol. 60
Availability: No items available.
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627.
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Polymorphisms of dopamine D2-like (D2, D3, and D4) receptors in schizophrenia. [electronic resource] by
- Ohara, K
- Nakamura, Y
- Xie, D W
- Ishigaki, T
- Deng, Z L
- Tani, K
- Zhang, H Y
- Kondo, N
- Liu, J C
- Miyasato, K
- Ohara, K
Producer: 19970319
In:
Biological psychiatry vol. 40
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628.
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Interferon-gamma enhances superoxide production in human mesangial cells via the JAK-STAT pathway. [electronic resource] by
- Moriwaki, K
- Kiyomoto, H
- Hitomi, H
- Ihara, G
- Kaifu, K
- Matsubara, K
- Hara, T
- Kondo, N
- Ohmori, K
- Nishiyama, A
- Fukui, T
- Kohno, M
Producer: 20060926
In:
Kidney international vol. 70
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629.
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Cytolytic mechanisms involved in non-MHC-restricted cytotoxicity in Chediak-Higashi syndrome. [electronic resource] by
- Nakazawa, T
- Agematsu, K
- Yasui, K
- Onodera, T
- Inoue, R
- Kaneko, H
- Kondo, N
- Yamamoto, M
- Kayagaki, N
- Yagita, H
- Okumura, K
- Komiyama, A
Producer: 19991119
In:
Clinical and experimental immunology vol. 118
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630.
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Functional heterogeneity of C-terminal peroxisome targeting signal 1 in PEX5-defective patients. [electronic resource] by
- Shimozawa, N
- Zhang, Z
- Suzuki, Y
- Imamura, A
- Tsukamoto, T
- Osumi, T
- Fujiki, Y
- Orii, T
- Barth, P G
- Wanders, R J
- Kondo, N
Producer: 19991001
In:
Biochemical and biophysical research communications vol. 262
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631.
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Transgenic over-expression of macrophage migration inhibitory factor renders mice markedly more susceptible to experimental colitis. [electronic resource] by
- Ohkawara, T
- Miyashita, K
- Nishihira, J
- Mitsuyama, K
- Takeda, H
- Kato, M
- Kondo, N
- Yamasaki, Y
- Sata, M
- Yoshiki, T
- Sugiyama, T
- Asaka, M
Producer: 20050509
In:
Clinical and experimental immunology vol. 140
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632.
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[Public health nurses' disaster responses for intractable neurological patients at home]. [electronic resource] by
- Iwasaki, Y
- Shimodaira, Y
- Okabe, T
- Kawamura, S
- Sakai, M
- Ushigome, M
- Ezawa, K
- Tokuyama, S
- Ogura, A
- Kasai, H
- Kondo, N
- Morimatsu, Y
Producer: 19990525
In:
[Nihon koshu eisei zasshi] Japanese journal of public health vol. 46
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633.
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Prenatal diagnosis of peroxisomal D-3-hydroxyacyl-CoA dehydratase/D-3-hydroxyacyl-CoA dehydrogenase bifunctional protein deficiency. [electronic resource] by
- Suzuki, Y
- Zhang, Z
- Shimozawa, N
- Muro, M
- Shono, H
- Toda, S
- Miyahara, S
- Hashimoto, T
- Usuda, N
- Ito, M
- Takashima, S
- Kondo, N
Producer: 19990608
In:
Journal of human genetics vol. 44
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634.
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Eosinophils are neither migrated nor activated in the skin lesions of atopic dermatitis in infants. [electronic resource] by
- Kondo, N
- Shinoda, S
- Fukutomi, O
- Agata, H
- Terada, T
- Shikano, H
- Montaño, A M
- Sakaguchi, H
- Watanabe, M
- Komiyama, K
- Yokoyama, Y
- Morimoto, N
Producer: 20000626
In:
Journal of investigational allergology & clinical immunology vol. 10
Availability: No items available.
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635.
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Nonsense and temperature-sensitive mutations in PEX13 are the cause of complementation group H of peroxisome biogenesis disorders. [electronic resource] by
- Shimozawa, N
- Suzuki, Y
- Zhang, Z
- Imamura, A
- Toyama, R
- Mukai, S
- Fujiki, Y
- Tsukamoto, T
- Osumi, T
- Orii, T
- Wanders, R J
- Kondo, N
Producer: 19990708
In:
Human molecular genetics vol. 8
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636.
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The mitochondrial acetoacetyl-CoA thiolase (T2) deficiency in Japanese patients: urinary organic acid and blood acylcarnitine profiles under stable conditions have subtle abnormalities in T2-deficient patients with some residual T2 activity. [electronic resource] by
- Fukao, T
- Zhang, G X
- Sakura, N
- Kubo, T
- Yamaga, H
- Hazama, A
- Kohno, Y
- Matsuo, N
- Kondo, M
- Yamaguchi, S
- Shigematsu, Y
- Kondo, N
Producer: 20040430
In:
Journal of inherited metabolic disease vol. 26
Availability: No items available.
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637.
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A novel common missense mutation G301C in the N-acetylgalactosamine-6-sulfate sulfatase gene in mucopolysaccharidosis IVA. [electronic resource] by
- Kato, Z
- Fukuda, S
- Tomatsu, S
- Vega, H
- Yasunaga, T
- Yamagishi, A
- Yamada, N
- Valencia, A
- Barrera, L A
- Sukegawa, K
- Orii, T
- Kondo, N
Producer: 19971224
In:
Human genetics vol. 101
Availability: No items available.
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638.
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Hunter disease in a girl caused by R468Q mutation in the iduronate-2-sulfatase gene and skewed inactivation of the X chromosome carrying the normal allele. [electronic resource] by
- Sukegawa, K
- Song, X Q
- Masuno, M
- Fukao, T
- Shimozawa, N
- Fukuda, S
- Isogai, K
- Nishio, H
- Matsuo, M
- Tomatsu, S
- Kondo, N
- Orii, T
Producer: 19971209
In:
Human mutation vol. 10
Availability: No items available.
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639.
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Life-threatening cardiac involvement throughout life in a case of Costello syndrome. [electronic resource] by
- Fukao, T
- Sakai, S
- Shimozawa, N
- Kuwahara, T
- Kano, M
- Goto, E
- Nakashima, Y
- Katagiri-Kawade, M
- Ichihashi, H
- Masuno, M
- Orii, T
- Kondo, N
Producer: 19970326
In:
Clinical genetics vol. 50
Availability: No items available.
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640.
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Evaluation of thermal neutron irradiation field using a cyclotron-based neutron source for alpha autoradiography. [electronic resource] by
- Tanaka, H
- Sakurai, Y
- Suzuki, M
- Masunaga, S
- Mitsumoto, T
- Kinashi, Y
- Kondo, N
- Narabayashi, M
- Nakagawa, Y
- Watanabe, T
- Fujimoto, N
- Maruhashi, A
- Ono, K
Producer: 20150512
In:
Applied radiation and isotopes : including data, instrumentation and methods for use in agriculture, industry and medicine vol. 88
Availability: No items available.
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