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Elucidation of the genetic causes of focal cortical dysplasia by detection of somatic variants and copy number variants

Elucidation of the genetic causes of focal cortical dysplasia by detection of somatic variants and copy number variants
通过检测体细胞变异和拷贝数变异来阐明局灶性皮质发育不良的遗传原因
批准号:
20K17936
负责人:
FUJITA Atsushi
金额:
$2.75万
依托单位:
依托单位国家:
日本
项目类别:
Grant-in-Aid for Early-Career Scientists
财政年份:
2020
资助国家:
日本
项目状态:
已结题
起止时间:
2020-04-01 至 2023-03-31

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中文摘要
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期刊论文(19)
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会议论文
A novel homozygous CHMP1A variant arising from segmental uniparental disomy causes pontocerebellar hypoplasia type 8
节段性单亲二体性产生的新型纯合 CHMP1A 变异导致 8 型脑桥小脑发育不全
DOI: 10.1038/s10038-022-01098-x
发表时间: 2023
期刊: J Hum Genet
影响因子: 3.5
作者: [M. Sakamoto, T. Shiiki, S. Matsui, N. Okamoto, E. Koshimizu, N. Tsuchida, Y. Uchiyama, K. Hamanaka, A. Fujita, S. Miyatake, K. Misawa, T. Mizuguchi and N. Matsumoto]
通讯作者: T. Mizuguchi and N. Matsumoto
Detecting the NOTCH2NLC Repeat Expansion in Neuronal Intranuclear Inclusion Disease
检测神经元核内包涵体病中的 NOTCH2NLC 重复扩增
DOI: 10.1007/978-1-0716-2357-2_7
发表时间: 2022
期刊: Genomic Structural Variants in Nervous System Disorders (Part of the Neuromethods book series)
影响因子: --
作者: [S. Mitsuhashi, A. Fujita, N. Matsumoto]
通讯作者: N. Matsumoto
Three KINSSHIP syndrome patients with mosaic and germline AFF3 variants
三名具有嵌合体和种系 AFF3 变异的 KINSSHIP 综合征患者
DOI: 10.1111/cge.14292
发表时间: 2023
期刊: Clinical Genetics
影响因子: 3.5
作者: [Inoue Yuta, Tsuchida Naomi, Okamoto Nobuhiko, Shuichi Shimakawa, Ohashi Kei, Saitoh Shinji, Ogawa Atsushi, Hamada Keisuke, Sakamoto Masamune, Miyake Noriko, Hamanaka Kohei, Fujita Atsushi, Koshimizu Eriko, Miyatake Satoko, Mizuguchi Takeshi, Ogata Kazuhiro, Uchiyama Yuri]
通讯作者: Uchiyama Yuri
DOI: 10.1186/s13073-022-01042-w
发表时间: 2022-04-26
期刊: Genome medicine
影响因子: 12.3
作者: []
通讯作者:
10
    The study on the lesson design constituted of three type "understanding"
    • 批准号:
      17K04358
    • 项目类别:
      Grant-in-Aid for Scientific Research (C)
    • 资助金额:
      $1.41万
    • 财政年份:
      2017
    • 负责人:
      FUJITA Atsushi
    • 依托单位:
    The study on the lesson design with instruction strategy to connect knowledge of learner.
    • 批准号:
      26380891
    • 项目类别:
      Grant-in-Aid for Scientific Research (C)
    • 资助金额:
      $1.41万
    • 财政年份:
      2014
    • 负责人:
      FUJITA Atsushi
    • 依托单位:
    The study on the lesson design which trains the academic ability which utilizes acquired knowledge.
    • 批准号:
      23530859
    • 项目类别:
      Grant-in-Aid for Scientific Research (C)
    • 资助金额:
      $1.83万
    • 财政年份:
      2011
    • 负责人:
      FUJITA Atsushi
    • 依托单位:
    Fundamental research about the multi-contact force display brain model
    • 批准号:
      22591587
    • 项目类别:
      Grant-in-Aid for Scientific Research (C)
    • 资助金额:
      $2.58万
    • 财政年份:
      2010
    • 负责人:
      FUJITA Atsushi
    • 依托单位:
    海外基金