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  1. 学術雑誌論文
  2. その他
  1. 部局別インデックス
  2. 医学部

Mild prominence of the Sylvian fissure in a Bainbridge-Ropers syndrome patient with a novel frameshift variant in ASXL3

http://hdl.handle.net/20.500.12000/45875
http://hdl.handle.net/20.500.12000/45875
62288904-f987-4457-baf8-ca9cf50bd595
名前 / ファイル ライセンス アクション
ccr3.1361.pdf ccr3.1361.pdf
Item type デフォルトアイテムタイプ(フル)(1)
公開日 2020-05-22
タイトル
タイトル Mild prominence of the Sylvian fissure in a Bainbridge-Ropers syndrome patient with a novel frameshift variant in ASXL3
言語 en
作成者 Chinen, Yasutsugu

× Chinen, Yasutsugu

en Chinen, Yasutsugu

Nakamura, Sadao

× Nakamura, Sadao

en Nakamura, Sadao

Ganaha, Akira

× Ganaha, Akira

en Ganaha, Akira

Hayashi, Shin

× Hayashi, Shin

en Hayashi, Shin

Inazawa, Johji

× Inazawa, Johji

en Inazawa, Johji

Yanagi, Kumiko

× Yanagi, Kumiko

en Yanagi, Kumiko

Nakanishi, Koichi

× Nakanishi, Koichi

en Nakanishi, Koichi

Kaname, Tadashi

× Kaname, Tadashi

en Kaname, Tadashi

Naritomi, Kenji

× Naritomi, Kenji

en Naritomi, Kenji

アクセス権
アクセス権 open access
アクセス権URI http://purl.org/coar/access_right/c_abf2
権利情報
言語 en
権利情報 Creative Commons Attribution-NonCommercial-NoDerivatives 4.0
言語 en
権利情報Resource https://creativecommons.org/licenses/by-nc-nd/4.0/
権利情報 https://creativecommons.org/licenses/by-nc-nd/4.0/
主題
言語 en
主題Scheme Other
主題 ASXL3
言語 en
主題Scheme Other
主題 Bainbridge-Ropers syndrome
言語 en
主題Scheme Other
主題 Sylvian fissure
内容記述
内容記述タイプ Other
内容記述 A Japanese boy aged 7 years with Bainbridge-Ropers syndrome (BRPS) had a prominent domed forehead without metric ridge, mild prominence of the Sylvian fissure with bitemporal hollowing, and a heterozygous de novo novel variant "p.P1010Lfs*14" in ASXL3 gene in addition to typical findings of BRPS.
内容記述タイプ Other
内容記述 論文
出版者
言語 en
出版者 Wiley
言語
言語 eng
資源タイプ
資源タイプ journal article
資源タイプ識別子 http://purl.org/coar/resource_type/c_6501
出版タイプ
出版タイプ VoR
出版タイプResource http://purl.org/coar/version/c_970fb48d4fbd8a85
識別子
識別子 http://hdl.handle.net/20.500.12000/45875
識別子タイプ HDL
関連情報
関連識別子
識別子タイプ DOI
関連識別子 https://doi.org/10.1002/ccr3.1361
関連識別子
識別子タイプ DOI
関連識別子 https://doi.org/10.1002/ccr3.1361
収録物識別子
収録物識別子タイプ ISSN
収録物識別子 2050-0904
収録物名
言語 en
収録物名 Clinical Case Reports
書誌情報
巻 6, 号 2, p. 330-336
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