Development of presumptive diagnostic methods for germ line mosaic variants using low frequency mosaic variants detection technologies
Development of presumptive diagnostic methods for germ line mosaic variants using low frequency mosaic variants detection technologies
批准号:
16K09975
负责人:
Kato Mitsuhiro
金额:
$3.0万
依托单位:
依托单位国家:
日本
项目类别:
Grant-in-Aid for Scientific Research (C)
财政年份:
2016
资助国家:
日本
项目状态:
已结题
起止时间:
2016-04-01 至 2020-03-31
中文摘要
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英文摘要
期刊论文(0)
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科研奖励(0)
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PROSC mutations feature variable phenotype of early-onset epileptic encephalopathy
PROSC 突变具有早发性癫痫性脑病的可变表型特征
DOI:
--
发表时间:
2017
期刊:
影响因子:
--
作者:
[Hiroshi Shiraku, Mitsuko Nakashima, Saoko Takeshita, Khoo Chai Soon, Muzhirah Haniffa, Ch'ng Gaik Siew, Kazuma Takada, Keisuke Nakajima, Masayasu Ohta, Tohru Okanishi, Sotaro Kanai, Ayataka Fujimoto, Hirotomo Saitsu, Naomichi Matsumoto, Mitsuhiro Kato]
通讯作者:
Mitsuhiro Kato
DOI:
10.1038/s10038-019-0656-7
发表时间:
2019-11-01
期刊:
JOURNAL OF HUMAN GENETICS
影响因子:
3.5
作者:
[Hiraide, Takuya, Yasui, Hikari Kaba, Saitsu, Hirotomo]
通讯作者:
Saitsu, Hirotomo
Why aetiology matters.
为什么病因学很重要。
DOI:
--
发表时间:
2017
期刊:
影响因子:
--
作者:
[Mitsuhiro Kato, Hiroki Mutoh, Tenpei Akita, Takuma Shibata, Hiroyuki Wakamoto, Hiroko Ikeda, Hiroki Kitaura, Kazushi Aoto, Mitsuko Nakashima, Tianying Wang, Chihiro Ohba, Satoko Miyatake, Noriko Miyake, Akiyoshi Kakita, Kensuke Miyake, Atsuo Fukuda, Naomi, Kato Mitsuhiro]
通讯作者:
Kato Mitsuhiro
Genetic role in infantile spasms
遗传在婴儿痉挛症中的作用
DOI:
--
发表时间:
2019
期刊:
影响因子:
--
作者:
[Syrbe S, Harms FL, Parrini E, Montomoli M, Mutze U, Helbig KL, Polster T, Albrecht B, Bernbeck U, van Binsbergen E, Biskup S, Burglen L, Denecke J, Heron B, Heyne H O, Hoffmann GF, Hornemann F, Matsushige T, Matsuura R, Kato M, et al., Kato Mitsuhiro]
通讯作者:
Kato Mitsuhiro
Epileptic spasms in five children carrying WDR45 mutations
五名携带 WDR45 突变的儿童出现癫痫痉挛
DOI:
--
发表时间:
2018
期刊:
影响因子:
--
作者:
[Taikan Oboshi, Yukitoshi Takahashi, Asako Horino, Yuiti Kimizu, Shinsaku Yoshitomi, Tokito Ymaguchi, Hiroko Ikeda, Hidenobu Otani, Katumi Imai, Hideo Shigematsu, Yushi Inoue, Mitsuhiro Kato]
通讯作者:
Mitsuhiro Kato
共 20 条
Various symmetries in string theory and their origin
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批准号:25287049
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项目类别:Grant-in-Aid for Scientific Research (B)
-
资助金额:$11.15万
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财政年份:2013
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负责人:Kato Mitsuhiro
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依托单位:
海外基金