Copy number variation analysis in 83 children with early-onset developmental and epileptic encephalopathy after targeted resequencing of a 109-epilepsy gene panel

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Copy number variation analysis in 83 children with early-onset developmental and epileptic encephalopathy after targeted resequencing of a 109-epilepsy gene panel

Persistent ID (NDL): info:ndljp/pid/11509534

Material type: 博士論文

Author: 平林, 恭子

Publisher: 平林, 恭子

Publication date: 2020

Material Format: Digital

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Name of awarding university/degree: 東京医科歯科大学,博士(歯学)

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Material Type: 博士論文
Title: Copy number variation analysis in 83 children with early-onset developmental and epileptic encephalopathy after targeted resequencing of a 109-epilepsy gene panel
Author/Editor: 平林, 恭子
Publication, Distribution, etc.: 平林, 恭子
Publication Date: 2020
Publication Date (W3CDTF): 2020
Alternative Title: 既報のてんかん原因遺伝子109個を含む遺伝子パネル解析より変異陰性であった乳幼児てんかん性脳症83症例における潜在的ゲノムコピー数異常の解析
Degree grantor/type: 東京医科歯科大学
Date Granted: 2020-03-26
Date Granted (W3CDTF): 2020-03-26
Dissertation Number: 甲第6005号
Degree Type: 博士(歯学)
Text Language Code: eng
Alias of Author: Hirabayashi, Kyoko
DOI: 10.1038/s10038-019-0661-x
https://doi.org/10.1038/s10038-019-0661-x
Persistent ID (NDL): info:ndljp/pid/11509534
https://dl.ndl.go.jp/pid/11509534
Collection: 障害者向け資料
Collection (Materials For Handicapped People:1): テキストデータ
Collection (particular): 国立国会図書館デジタルコレクション > デジタル化資料 > 博士論文
https://dl.ndl.go.jp/collections/A00014
Acquisition Basis: 博士論文（送信）
Date Accepted (W3CDTF): 2020-06-26T14:31:12+09:00
Format (IMT): application/pdf
Access Restrictions: 国立国会図書館内限定公開
Service for the Digitized Contents Transmission Service: 図書館・個人送信対象外
Availability of remote photoduplication service: 可
Data Provider (Database): 国立国会図書館 : 国立国会図書館デジタルコレクション
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