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Misaki Maiko  三崎 真生子

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… Alternative Names

三崎 真生子  ミサキ マイコ

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Researcher Number 50595048
Affiliation (Current) 2025: 兵庫医科大学, 医学部, 助教
Affiliation (based on the past Project Information) *help 2017 – 2019: 兵庫医科大学, 医学部, 助教
Review Section/Research Field
Except Principal Investigator
Pediatrics
Keywords
Except Principal Investigator
小児神経学 / 次世代シークエンサー / エクソンスキッピング / 分子治療 / 筋ジストロフィー / exon skipping / splicing / molecular therapy / muscular dystrophy
  • Research Projects

    (1 results)
  • Research Products

    (6 results)
  • Co-Researchers

    (3 People)
  •  Non-invasive system for predicting effectiveness of the exon skipping therapy for muscular dystrophy

    • Principal Investigator
      Yasuhiro Takeshima
    • Project Period (FY)
      2017 – 2019
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Pediatrics
    • Research Institution
      Hyogo Medical University

All 2019 2018

All Presentation

  • [Presentation] A manifesting carrier of Duchenne Muscular Dystrophy with a balanced X-autosome translocation with a breakpoint in the dystrophin gene2019

    • Author(s)
      Lee T., Sokoda T., Misaki M., Shimomura H., Takeshima Y.
    • Organizer
      24th International Annual Congress of the World Muscle Society
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-17K10087
  • [Presentation] Clinical background of hyper-creatine-kinase-emia girls without a family history of genetic muscular diseases2019

    • Author(s)
      Tamoko L., Tokunaga S.,, Mure C., Misaki M., Shimomura H., Nishino I., Itoh K., Takeshima Y.
    • Organizer
      EUROPEAN HUMAN GENETICS CONFERENCE 2019
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-17K10087
  • [Presentation] 新規変異を同定した重症型LMNA-related congenital muscular dystrophyの一例2018

    • Author(s)
      李 知子、下村英毅、牟禮慎子、三崎真生子、香田 翼、柴田暁男、
    • Organizer
      第60回日本小児神経学会学術集会
    • Data Source
      KAKENHI-PROJECT-17K10087
  • [Presentation] 家族歴のない無症候性高CK血症女児の検討2018

    • Author(s)
      李知子、三崎真生子、下村英毅、伊東恭子、竹島泰弘
    • Organizer
      第121回日本小児科学会学術集会
    • Data Source
      KAKENHI-PROJECT-17K10087
  • [Presentation] 次世代シークエンサーを用いた遺伝子解析によりCalpain-3遺伝子変異を同定した筋症状のない高CK血症女児2018

    • Author(s)
      李知子、西岡 隆文、三崎真生子、下村英毅、竹島泰弘
    • Organizer
      日本人類遺伝学会第63回大会
    • Data Source
      KAKENHI-PROJECT-17K10087
  • [Presentation] 新規変異を同定した重症型LMNA-related congenital muscular dystrophyの一例2018

    • Author(s)
      李 知子、下村英毅、牟禮慎子、三崎真生子、香田 翼、柴田暁男、川本久美、岡田陽子、小泉真琴、伊東恭子、竹島泰弘
    • Organizer
      日本小児神経学会
    • Data Source
      KAKENHI-PROJECT-17K10087
  • 1.  Yasuhiro Takeshima (40281141)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 5 results
  • 2.  李 知子 (10596042)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 5 results
  • 3.  下村 英毅 (30441273)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 6 results

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