Academic yr: <<< Previous
2023
2024
2025
輸血・細胞プロセシング科
|
■ Summary
|
■ Research grants & projects
|
■ Research works
| Journal |
Book |
Presentation |
Other presentations |
| Japanese | English |
Japanese | English |
Domestic | international |
| First author | Corresponding
Author | Co-author | First author | Corresponding
Author | Co-author |
First author | Co-author | First author | Co-author |
Presenter | Co-presenter | Presenter | Co-presenter |
Presenter | Co-presenter |
| 0 | 0 | 0 | 0 | 0 | 2 |
0 | 0 | 0 | 0 |
1 | 2 |
0 | 0 |
0 | 0 |
|
|
To the top
|
|
■ Published papers
|
Original article
|
|
1.
|
Shirai H, Shimojima Yamamoto K, Arai H, Sawaishi Y, Fujita S, Kuriyama Y, Miura M, Tohyama J, Yamamoto T*：
Balanced chromosomal insertions as the mechanism of recurrent familial microstructural abnormalities: detailed analyses using long-read whole-genome sequencing.
Journal of Human Genetics
in press
：in press
, 2025.9
DOI:doi.org/10.1038/s10038-025-01408-z
|
|
Review article
|
|
1.
|
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
DOI:DOI: 10.1016/j.braindev.2025.104363
|
|
To the top
|
|
■ Academic conference presentation
|
1.
|
遠山 潤、三浦雅樹、藤田沙緒里、栗山洋子、小林 悠、放上萌美、山田 慧、藤井仁美、白井宏直、下島圭子、山本俊至：
1p36欠失症候群家系内発症例の遺伝カウンセリングの経験.
第４９回日本遺伝カウンセリング学会学術集会,
札幌,
2025/08
|
|
2.
|
◎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
|
|
3.
|
◎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
|
|
To the top
|
|
