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Fumiaki Kamada

Showing results (1-10 of 14) with videos related to

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Nihon Rinsho. Japanese Journal of Clinical Medicine|January 19, 2006
[Gene amplification method]Fumiaki Kamada, Yoichi Matsubara
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|December 18, 2007
A loss-of-function mutation in the FTSJ1 gene causes nonsyndromic X-linked mental retardation in a Japanese familyKyoko Takano, Eiji Nakagawa, Ken Inoue, et al.
Journal of Medical Genetics|March 16, 2007
Genomic deletion within GLDC is a major cause of non-ketotic hyperglycinaemiaJunko Kanno, Tim Hutchin, Fumiaki Kamada, et al.
Journal of Child Neurology|March 7, 2009
Smith-Magenis syndrome with West syndrome in a 5-year-old girl: a long-term follow-up studyNaomi Hino-Fukuyo, Kazuhiro Haginoya, Mitsugu Uematsu, et al.
American Journal of Physiology. Renal Physiology|September 13, 2013
Development of enzyme-linked immunosorbent assays for urinary thiazide-sensitive Na-Cl cotransporter measurementKiyoshi Isobe, Takayasu Mori, Takako Asano, et al.
Annals of Neurology|April 25, 2006
Rapid diagnosis of glycine encephalopathy by 13C-glycine breath testShigeo Kure, Stanley H Korman, Junko Kanno, et al.
Pediatric Research|April 17, 2008
Model mice for mild-form glycine encephalopathy: behavioral and biochemical characterizations and efficacy of antagonists for the glycine binding site of N-methyl D-aspartate receptorKanako Kojima-ishii, Shigeo Kure, Akiko Ichinohe, et al.
Journal of Human Genetics|April 6, 2006
A novel KCNQ4 one-base deletion in a large pedigree with hearing loss: implication for the genotype-phenotype correlationFumiaki Kamada, Shigeo Kure, Takayuki Kudo, et al.
Human Genetics|July 28, 2004
Variations in the C3, C3a receptor, and C5 genes affect susceptibility to bronchial asthmaKoichi Hasegawa, Mayumi Tamari, Chenchen Shao, et al.
Molecular Genetics and Metabolism|April 17, 2007
Allelic and non-allelic heterogeneities in pyridoxine dependent seizures revealed by ALDH7A1 mutational analysisJunko Kanno, Shigeo Kure, Ayumi Narisawa, et al.
Pageof 2

Showing results (1-10 of 14) with videos related to

Sort By:
Pageof 2
Nihon Rinsho. Japanese Journal of Clinical Medicine|January 19, 2006
[Gene amplification method]Fumiaki Kamada, Yoichi Matsubara
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|December 18, 2007
A loss-of-function mutation in the FTSJ1 gene causes nonsyndromic X-linked mental retardation in a Japanese familyKyoko Takano, Eiji Nakagawa, Ken Inoue, et al.
Journal of Medical Genetics|March 16, 2007
Genomic deletion within GLDC is a major cause of non-ketotic hyperglycinaemiaJunko Kanno, Tim Hutchin, Fumiaki Kamada, et al.
Journal of Child Neurology|March 7, 2009
Smith-Magenis syndrome with West syndrome in a 5-year-old girl: a long-term follow-up studyNaomi Hino-Fukuyo, Kazuhiro Haginoya, Mitsugu Uematsu, et al.
American Journal of Physiology. Renal Physiology|September 13, 2013
Development of enzyme-linked immunosorbent assays for urinary thiazide-sensitive Na-Cl cotransporter measurementKiyoshi Isobe, Takayasu Mori, Takako Asano, et al.
Annals of Neurology|April 25, 2006
Rapid diagnosis of glycine encephalopathy by 13C-glycine breath testShigeo Kure, Stanley H Korman, Junko Kanno, et al.
Pediatric Research|April 17, 2008
Model mice for mild-form glycine encephalopathy: behavioral and biochemical characterizations and efficacy of antagonists for the glycine binding site of N-methyl D-aspartate receptorKanako Kojima-ishii, Shigeo Kure, Akiko Ichinohe, et al.
Journal of Human Genetics|April 6, 2006
A novel KCNQ4 one-base deletion in a large pedigree with hearing loss: implication for the genotype-phenotype correlationFumiaki Kamada, Shigeo Kure, Takayuki Kudo, et al.
Human Genetics|July 28, 2004
Variations in the C3, C3a receptor, and C5 genes affect susceptibility to bronchial asthmaKoichi Hasegawa, Mayumi Tamari, Chenchen Shao, et al.
Molecular Genetics and Metabolism|April 17, 2007
Allelic and non-allelic heterogeneities in pyridoxine dependent seizures revealed by ALDH7A1 mutational analysisJunko Kanno, Shigeo Kure, Ayumi Narisawa, et al.
Pageof 2