Academic yr: <<< Previous
2022
2023
2024
ゲノム診療科
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■ Summary
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■ Research grants & projects
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1.
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(Grant No.：23DA0801)
Budget amount：\100,000 (Co-investigator)
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2.
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(Grant No.：23FC1008)
Budget amount：\800,000 (Co-investigator)
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■ 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 | 1 | 0 |
0 | 2 | 0 | 1 |
0 | 0 |
0 | 0 |
0 | 0 |
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■ Published papers
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Case report
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1.
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Shimojima Yamamoto K†, Itagaki Y, Tanaka K, Okamoto N, Yamamoto T*：
Xq22 deletion involving TCEAL1 in a female patient with early-onset neurological disease trait.
Human Genome Variation
：in press
, 2024.4
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■ Books
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1.
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齋藤加代子：
脊髄性筋萎縮症 （18章 神経・筋疾患）.
最新ガイドライン準拠 小児科診断・治療指針 改訂第３版
796-799.
中山書店,
東京,
2024.4
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2.
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山本俊至：
染色体異常症.
今日の診断指針 第９版
in press.
医学書院,
東京,
2024.4
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3.
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Tamura T, Imaizumi T, Shimojima Yamamoto K, Yamamoto T：
Chapter 24: Genomic Copy Number Analysis Using Droplet Digital PCR: A Simple Method with EvaGreen Single-Color Fluorescent Design.
Cerebral Cortex Development-Methods and Protocols
293-304.
Springer Nature,
Hertfordshire, UK,
2024.4
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