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J

Jun Yoshimura

University of Tokyo
H指数:25
被引数:3,297

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Somatic GJA4 gain-of-function mutation in orbital cavernous venous malformations
2022-07-298
OAAI
Clinical usefulness of multigene screening with phenotype-driven bioinformatics analysis for the diagnosis of patients with monogenic diabetes or severe insulin resistance

多基因筛查与表型驱动的生物信息学分析在单基因糖尿病或严重胰岛素抵抗患者诊断中的临床应用

2020-11-015
OAAI
Ataxic phenotype with altered Cav3.1 channel property in a mouse model for spinocerebellar ataxia 42

在脊髓小脑性共济失调的小鼠模型中具有改变的Cav3.1通道特性的共济失调表型42

2019-10-0119
PREAI
Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease
2019-07-22292
PREAI
Mutations in COA7 cause spinocerebellar ataxia with axonal neuropathy
BRAIN
IF11.7
2018-04-2737
OAAI
Frequency and characteristics of the TBK1 gene variants in Japanese patients with sporadic amyotrophic lateral sclerosis

日本散发性肌萎缩性侧索硬化症患者TBK1基因变异的频率和特征

2018-04-0115
PREAI
Molecular epidemiological study of familial amyotrophic lateral sclerosis in Japanese population by whole-exome sequencing and identification of novel HNRNPA1 mutation

全外显子组测序对日本人群家族性肌萎缩侧索硬化的分子流行病学研究和新HNRNPA1突变的鉴定

2018-01-0145
PREAI