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Whole-exome sequencing identifies a de novo TUBA1A mutation in a patient with sporadic malformations of cortical development: a case report
http://hdl.handle.net/10470/00032972
http://hdl.handle.net/10470/0003297296f5d975-e362-4a8c-a6e5-b5e459b186db
名前 / ファイル | ライセンス | アクション |
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z000229 (1.1 MB)
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Item type | 学術雑誌論文 / Journal Article(1) | |||||
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公開日 | 2021-10-14 | |||||
タイトル | ||||||
タイトル | Whole-exome sequencing identifies a de novo TUBA1A mutation in a patient with sporadic malformations of cortical development: a case report | |||||
言語 | ||||||
言語 | eng | |||||
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 |
SHIMOJIMA, Keiko
× SHIMOJIMA, Keiko× NARITA, Aya× MAEGAKI, Yoshihiro× SAITO, Akira× FURUKAWA, Toru× YAMAMOTO, Toshiyuki |
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出版者 | ||||||
出版者 | Springer Nature | |||||
受付日付 | ||||||
日付 | 2021-10-14 | |||||
日付タイプ | Created | |||||
ISSN | ||||||
収録物識別子タイプ | ISSN | |||||
収録物識別子 | 1756-0500 | |||||
書誌情報 |
BMC Research Notes 巻 7, p. 465, 発行日 2014 |
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PMID | ||||||
関連タイプ | isIdenticalTo | |||||
識別子タイプ | PMID | |||||
関連識別子 | 25053001 | |||||
DOI | ||||||
関連タイプ | isIdenticalTo | |||||
識別子タイプ | DOI | |||||
関連識別子 | 10.1186/1756-0500-7-465 | |||||
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 | |||||
著作権関連情報 | ||||||
権利情報 | © 2014 Shimojima et al.; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited. | |||||
著者所属 | ||||||
Precursory Research for Embryonic Science and Technology (PRESTO), Japan Science and Technology Agency (JST)/Tokyo Women’s Medical University Institute for Integrated Medical Sciences | ||||||
著者所属 | ||||||
StaGen Co., Ltd. | ||||||
著者所属 | ||||||
StaGen Co., Ltd. | ||||||
著者所属 | ||||||
Division of Child Neurology, Faculty of Medicine, Tottori University | ||||||
著者所属 | ||||||
Tokyo Women’s Medical University Institute for Integrated Medical Sciences | ||||||
著者所属 | ||||||
Tokyo Women’s Medical University Institute for Integrated Medical Sciences |