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Pathogenic variants detected by RNA sequencing in Cornelia de Lange syndrome
https://jair.repo.nii.ac.jp/records/2002977
https://jair.repo.nii.ac.jp/records/200297733e36305-05ce-4bb4-ab9f-c8a719216c76
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審査結果の要旨 (150.0 KB)
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論文内容の要旨 (125.2 KB)
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全文【出版社版】 (7.6 MB)
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| Item type | 学位論文 / Thesis or Dissertation(1) | |||||||||
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| PubDate | 2023-06-19 | |||||||||
| Title | ||||||||||
| Title | Pathogenic variants detected by RNA sequencing in Cornelia de Lange syndrome | |||||||||
| Language | en | |||||||||
| Title | ||||||||||
| Alternative Title | (RNA sequencingを用いたCornelia de Lange 症候群における病的バリアントの探索) | |||||||||
| Language | ja | |||||||||
| Language | ||||||||||
| Language | eng | |||||||||
| Resource Type | ||||||||||
| Resource Type Identifier | http://purl.org/coar/resource_type/c_db06 | |||||||||
| Resource Type | doctoral thesis | |||||||||
| Access Right | ||||||||||
| Access Rights | open access | |||||||||
| Access Rights URI | http://purl.org/coar/access_right/c_abf2 | |||||||||
| Creator |
瀬山, 理惠
× 瀬山, 理惠
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| Degree Name | ||||||||||
| Language | ja | |||||||||
| Degree Name | 博士（医学） | |||||||||
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| Degree Grantor Name Identifier Scheme | kakenhi | |||||||||
| Degree Grantor Name Identifier | 32620 | |||||||||
| Language | ja | |||||||||
| Degree Grantor Name | 順天堂大学 | |||||||||
| Degree Granting Year | ||||||||||
| Description Type | Other | |||||||||
| Description | 2022年度 | |||||||||
| Language | ja | |||||||||
| Degree Granting Date | ||||||||||
| Date Granted | 2023-03-20 | |||||||||
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| Dissertation Number | 甲第2662号 | |||||||||
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| Relation Type | isIdenticalTo | |||||||||
| Identifier Type | DOI | |||||||||
| Related Identifier | https://doi.org/10.1016/j.ygeno.2022.110468 | |||||||||
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| Version Type | VoR | |||||||||
| Version Type Resource | http://purl.org/coar/version/c_970fb48d4fbd8a85 | |||||||||
