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2023
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2025
輸血・細胞プロセシング科
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■ Summary
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■ Research grants & projects
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■ Research works
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Other presentations |
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Japanese | English |
Domestic | international |
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■ Published papers
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Review article
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1.
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Shimomura R*, Kihara Y, Yanagishita T, Ishiguro K, Shichiji M, Sato T, Shimojima Yamamoto K, Ishihara Y, Nasgata M, Miyashita Y, Asano Y, Ishigaki K, Nagata S, Yamamoto T：
Challenges in genetic counseling for RYR1-related myopathies.
Brain & Development
47
(3)
：104363
, 2025.6
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■ Academic conference presentation
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1.
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◎下村里奈, 蒋池勇太, 山本圭子, 白井陽子, 石垣景子, 三浦健一郎, 永田 智, 山本俊至：
皮質下嚢胞をもつ大頭型白質脳症（MIC）のバイオマーカーとしての血清NfL解析.
第67回日本小児神経学会学術集会,
米子,
2025/06
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2.
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◎下島圭子, 三宮直子, 下村里奈, 山本俊至：
ゲノム編集技術を用いた皮質下のう胞をもつ大頭型白質脳症(MLC)の発症メカニズムの解明.
第67回日本小児神経学会学術集会,
米子,
2025/06
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