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A Novel PAFAH1B1 Splicing Variant Identified in a Patient with Classical Lissencephaly
http://hdl.handle.net/10470/00032751
http://hdl.handle.net/10470/000327515f5ae669-a649-4f47-9135-58b0d2852e58
名前 / ファイル | ライセンス | アクション |
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0400000085.pdf (509.1 kB)
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Item type | 学術雑誌論文 / Journal Article(1) | |||||
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公開日 | 2021-02-02 | |||||
タイトル | ||||||
タイトル | A Novel PAFAH1B1 Splicing Variant Identified in a Patient with Classical Lissencephaly | |||||
言語 | ||||||
言語 | eng | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | agyria | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | West syndrome | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | Miller-Dieker syndrome | |||||
資源タイプ | ||||||
資源タイプ識別子 | http://purl.org/coar/resource_type/c_6501 | |||||
資源タイプ | journal article | |||||
著者名 |
YANAGISHITA, Tomoe
× YANAGISHITA, Tomoe× ETO, Kaoru× YAMAMOTO-SHIMOJIMA, Keiko× IMAIZUMI, Taichi× NAGATA, Satoru× YAMAMOTO, Toshiyuki |
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出版者 | ||||||
出版者 | 東京女子医科大学学会 | |||||
受付日付 | ||||||
日付 | 2021-02-02 | |||||
日付タイプ | Created | |||||
ISSN | ||||||
収録物識別子タイプ | ISSN | |||||
収録物識別子 | 2432-6186 | |||||
書誌情報 |
Tokyo Women's Medical University Journal 巻 4, p. 85-89, 発行日 2020-12-25 |
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著者版フラグ | ||||||
出版タイプ | VoR | |||||
出版タイプResource | http://purl.org/coar/version/c_970fb48d4fbd8a85 | |||||
著者所属 | ||||||
Department of Pediatrics, Tokyo Women's Medical University/Institute of Medical Genetics, Tokyo Women's Medical University | ||||||
著者所属 | ||||||
Department of Pediatrics, Tokyo Women's Medical University | ||||||
著者所属 | ||||||
Department of Pediatrics, Tokyo Women's Medical University/Institute of Medical Genetics, Tokyo Women's Medical University | ||||||
著者所属 | ||||||
Institute of Medical Genetics, Tokyo Women's Medical University/Department of Pediatrics, St. Marianna University School of Medicine | ||||||
著者所属 | ||||||
Department of Pediatrics, Tokyo Women's Medical University | ||||||
著者所属 | ||||||
Department of Pediatrics, Tokyo Women's Medical University/Institute of Medical Genetics, Tokyo Women's Medical University |