WEKO3
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A homozygous variant in NDUFA8 is associated with developmental delay, microcephaly, and epilepsy due to mitochondrial complex I deficiency
https://jair.repo.nii.ac.jp/records/2002697
https://jair.repo.nii.ac.jp/records/20026975fcf32a8-7675-4718-8a22-dab26794136b
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審査結果の要旨 (156.0 KB)
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論文内容の要旨 (160.0 KB)
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全文【著者最終稿】 (615.0 KB)
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| Item type | 学位論文 / Thesis or Dissertation(1) | |||||||||
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| PubDate | 2020-09-20 | |||||||||
| Title | ||||||||||
| Title | A homozygous variant in NDUFA8 is associated with developmental delay, microcephaly, and epilepsy due to mitochondrial complex I deficiency | |||||||||
| Language | en | |||||||||
| Title | ||||||||||
| Alternative Title | (NDUFA8遺伝子におけるホモ接合変異は、ミトコンドリア呼吸鎖I欠損症によって生じる発達遅滞・小頭症・てんかんに関連する) | |||||||||
| Language | ja | |||||||||
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| Language | eng | |||||||||
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| 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 |
八塚, 由紀子
× 八塚, 由紀子
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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 | |||||||||
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| Description Type | Other | |||||||||
| Description | 2020年度 | |||||||||
| Language | ja | |||||||||
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| Date Granted | 2020-09-20 | |||||||||
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| Dissertation Number | 乙第2477号 | |||||||||
| Right | ||||||||||
| Language | en | |||||||||
| Rights | This is the peer reviewed version of the following article:Yatsuka Y, Kishita Y, Formosa LE, Shimura M, Nozaki F, Fujii T, Nitta KR, Ohtake A, Murayama K, Ryan MT, Okazaki Y. A homozygous variant in NDUFA8 is associated with developmental delay, microcephaly, and epilepsy due to mitochondrial complex I deficiency. Clin Genet. 2020 Aug;98(2):155-165, which has been published in final form athttps://doi.org/10.1111/cge.13773. This article may be used for non-commercial purposes in accordance with Wiley Terms and Conditions for Use of Self-Archived Versions | |||||||||
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| Relation Type | isVersionOf | |||||||||
| Identifier Type | DOI | |||||||||
| Related Identifier | https://doi.org/10.1111/cge.13773 | |||||||||
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| Version Type | AM | |||||||||
| Version Type Resource | http://purl.org/coar/version/c_ab4af688f83e57aa | |||||||||
