臺灣學術機構典藏系統 (Taiwan Academic Institutional Repository, TAIR)

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臺灣學術機構典藏系統 (Taiwan Academic Institutional Repository, TAIR)

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	Repositories
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	2019臺灣學術機構典藏研討會
	機構典藏系統RC7版本已發佈

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Institution	Date	Title	Author
國立成功大學	2024-12	Homozygous variant in translocase of outer mitochondrial membrane 7 leads to metabolic reprogramming and microcephalic osteodysplastic dwarfism with moyamoya disease	Li;Chia-Yi;Chen;Li-Wen;Tsai;Meng-Che;Chou;Yen-Yin;Lin;Pei-Xuan;Chang;Yu-Ming;Hwu;Wuh-Liang;Chien;Yin-Hsiu;Lin;Ju-Li;Chen;Hui-An;Lee;Ni-Chung;Su;Pen-Hua;Hsieh;Tzung-Chien;Klinkhammer;Hannah;Wang;Yi-Chieh;Huang;Yi-Ting;Krawitz;Peter, M.;Lin;Sheng-Hsiang;Huang;Lynn, Lynn L. H.;Chiang;Po-Min;Shih;Min-Hsiu;Chen;Peng-Chieh
國立成功大學	2024-04-20	A practical synthesis of nitrone-derived C5a-functionalized isofagomines as protein stabilizers to treat Gaucher disease	Li;Huang-Yi;Chen;Wei-An;Lin;Hung-Yi;Tsai;Chi-Wei;Chiu;Yu-Ting;Yun;Wen-Yi;Lee;Ni-Chung;Chien;Yin-Hsiu;Hwu;Wuh-Liang;Cheng;Wei-Chieh
國立成功大學	2022-05	Whole exome sequencing identifies a novel FRAS1 mutation and aids in vitro fertilization with preimplantation genetic diagnosis in Fraser syndrome	Ou;Tsung-Ying;Tsai;Meng-Che;Kuo;Pao-Lin;Lee;Ni-Chung;Chou;Yen-Yin
國立成功大學	2022-01-11	PAX2 Mutation-Related Renal Hypodysplasia: Review of the Literature and Three Case Reports	Chang;Yu-Ming;Chen;Chih-Chia;Lee;Ni-Chung;Sung;Junne-Ming;Chou;Yen-Yin;Chiou;Yuan-Yow

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