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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	機構典藏計畫網站
	ROAR
	OpenDOAR
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	臺大學術典藏NTU Scholars

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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	2024-10	Luspatercept for non-deletional hemoglobin H disease	Yang;Yuan-Ning;Chou;Yen-Yin;Cheng;Chao-Neng
國立成功大學	2024-08	Identification of southern Taiwan genetic variants in thyroid dyshormonogenesis through whole-exome sequencing	Tsai;Ching-Chao;Chang;Yu-Ming;Chou;Yen-Yin;Chen;Shou-Yen;Pan;Yu-Wen;Tsai;Meng-Che
國立成功大學	2024-07	Demographics and medical burden of osteogenesis imperfecta: a nationwide database analysis	Shih;Chien-An;Li;Chia-Chun;Chang;Yin-Fan;Hwang;Jawl-Shan;Tsai;Meng-Che;Chou;Yen-Yin;Lin;Chii-Jeng;Huang;Ming-Tung;Hong;Chih-Kai;Tai;Ta-Wei;Wu;Chih-Hsing
國立成功大學	2024-06	Functional validation of a novel PBX1 missense variant in a girl with XY sex reversal	Tsai;Meng-Che;Weng;Yun-Han;Wang;Yi-Chieh;Chou;Yen-Yin;Chen;Peng-Chieh
國立成功大學	2024-04-26	Syndromic ciliopathy: a taiwanese single-center study	Pan;Yu-Wen;Ou;Tsung-Ying;Chou;Yen-Yin;Kuo;Pao-Lin;Hsiao;Hui-Pin;Chiu;Pao-Chin;Lin;Ju-Li;Lo;Fu-Sung;Wang;Chung-Hsing;Chen;Peng-Chieh;Tsai;Meng-Che
國立成功大學	2024-04	Non-Surgical Strategies for Managing Skeletal Deformities in a Child with X-Linked Hereditary Hypophosphatemic Ricket: Insights and Perspectives	Tie;Tung-Hee;Lin;Wei-Han;Huang;Ming-Tung;Wu;Po-Ting;Tsai;Meng-Che;Chou;Yen-Yin;Hong;Chih-Kai;Lin;Chii-Jeng;Shih;Chien-An
國立成功大學	2024-02	NR1H4 mutation and rapid progressive intrahepatic cholestasis in infancy: A case report and literature review	Yang;Chiao-Yu;Tsai;Hung-Wen;Chou;Yen-Yin;Yang;Yao-Jong
國立成功大學	2024-01~2024-02	Spectrum of PHEX Mutations and FGF23 Profiles in a Taiwanese Cohort With X-Linked Hypophosphatemia Including 102 Patients	Su;Pen-hua;Yu;Ju-shan;Wu;Yu-zhen;Tsai;Yu-shen;Lo;Fu-sung;Lin;Ju-li;Chao;Mei-chyn;Hsu;Chia-chi;Ke;Yu-yuan;Chiu;Pao-chin;Chen;Jo-ching;Huang;Ying-hua;Lin;Shuan-pei;Chou;Yen-yin;Ting;Wei-hsin;Wang;Shuo-yu;Chiu;Chiao-fan;Huang;Yen-chun;Hsiao;Hui-pin;Lin;Chao-hsu;Wang;Chung-hsing;Bau;Da-tian;Lin;Ching-yuang
國立成功大學	2023-09-14	Correlates of disordered eating and insulin restriction behavior and its association with psychological health in Taiwanese youths with diabetes mellitus	Chou;Wei-Chih;Chou;Yen-Yin;Pan;Yu-Wen;Ou;Tsung-Ying;Tsai;Meng-Che
國立成功大學	2023-02	Whole-Exome Sequencing Identified Rare Genetic Variants Associated with Undervirilized Genitalia in Taiwanese Pediatric Patients	Tsai;Meng-Che;Weng;Yun-Han;Lin;Yu-Fang;Wang;Yi-Chieh;Yu;Hui-Wen;Chou;Yen-Yin;Chen;Peng-Chieh
國立成功大學	2023-01	Active-fluidics versus gravity-fluidics in lens extraction: A systematic review and meta-analysis of randomized controlled trials	Su;Yu-Chen;Lee;Yen-Yin;Su;Yu-Chi
國立成功大學	2022-05	Postnatal Serum Total Thyroxine Level Associated with Short- and Long-Term Anthropometric Outcomes in Very Preterm Infants	Chen;Yen-Ju;Chu;Wei-Ying;Pan;Yu-Wen;Wang;Chen-Yueh;Chou;Yen-Yin;Lin;Chyi-Her;Tsuda;Kennosuke;Iwata;Osuke;Yu;Wen-Hao;Lin;Yung-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	2022-04-8	Genetic Diagnosis of Rubinstein-Taybi Syndrome With Multiplex Ligation-Dependent Probe Amplification (MLPA) and Whole-Exome Sequencing (WES): Case Series With a Novel CREBBP Variant	Lee;Yu-Rong;Lin;Yu-Chen;Chang;Yi-Han;Huang;Hsin-Yu;Hong;Yi-Kai;Aala;Wilson, Jr F.;Tu;Wei-Ting;Tsai;Meng-Che;Chou;Yen-Yin;Hsu;Chao-Kai
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
國立成功大學	2021-09	Is Non-Stimulated C-Peptide at Diagnosis a Good Predictive Value for Insulin Use at Two Years after Diagnosis in Pediatric Diabetic Patients?	Chou;Wei-Chih;Chou;Yen-Yin;Pan;Yu-Wen;Tsai;Meng-Che
國立成功大學	2021-07-28	New Structural and Single Nucleotide Mutations in Type I and Type II Collagens in Taiwanese Children With Type I and Type II Collagenopathies	Tsai;Meng-Che;Chou;Yen-Yin;Li;Chia-Yi;Wang;Yi-Chieh;Yu;Hui-Wen;Chen;Chia-Hsiang;Chen;Peng-Chieh
國立成功大學	2021-07	Precocious puberty as a consequence of anti-NMDA receptor encephalitis in children	Wu;Po-Ming;Teng;Chao-Ku;Chou;Yen-Yin;Tu;Yi-Fang
國立成功大學	2021-04	Postnatal Serum Total Thyroxine of Very Preterm Infants and Long-Term Neurodevelopmental Outcome	Lin;Yung-Chieh;Wang;Chen-Yueh;Pan;Yu-Wen;Chen;Yen-Ju;Yu;Wen-Hao;Chou;Yen-Yin;Huang;Chi-Hsien;Chu;Wei-Ying;Lin;Chyi-Her;Iwata;Osuke
國立成功大學	2020-06	A synchrotron X-ray imaging strategy to map large animal brains	Chin;An-Lun;Yang;Shun-Min;Chen;Hsiang-Hsin;Li;Min-Tsang;Lee;Tsung-Tse;Chen;Ying-Jie;Lee;Ting-Kuo;Petibois;Cyril;Cai;Xiaoqing;Low;Chian-Ming;Tan;Kuan, Francis Chee;Teo;Alvin;Tok;Soon, Eng;Ong;Edwin, B. L.;Lin;Yen-Yin;Lin;I-Jin;Tseng;Yi-Chi;Chen;Nan-Yow;Shih;Chi-Tin;Lim;Jae-Hong;Lim;Jun;Je;Jung-Ho;Kohmura;Yoshiki;Ishikawa;Tetsuya;Margaritondo;Giorgio;Chiang;Ann-Shyn;Hwu;Yeukuang
國立成功大學	2020-06	Segmental isodisomy in Prader-Willi syndrome patients: The experience of a single diagnostic center	Pan;Yu-Wen;Chang;Chia-Wei;Jong;Yiin-Jeng;Chou;Yen-Yin;Kuo;Pao-Lin
國立成功大學	2019-12	The relationship between nonalcoholic fatty liver disease and pediatric congenital hypothyroidism patients	Pan;Yu-Wen;Tsai;Meng-Che;Yang;Yao-Jong;Chen;Ming-Yin;Chen;Shou-Yen;Chou;Yen-Yin
國立成功大學	2018-04-18	Rare Compound Heterozygous Frameshift Mutations in &ITALMS1&IT Gene Identified Through Exome Sequencing in a Taiwanese Patient With Alstrom Syndrome	Tsai;Meng-Che;Yu;Hui-Wen;Liu;Tsunglin;Chou;Yen-Yin;Chiou;Yuan-Yow;Chen;Peng-Chieh
國立成功大學	2018-02-3	Metabolic correlates of health-related quality of life among overweight and obese adolescents	Lee;Chih-Ting;Lin;Chung-Ying;Strong;Carol;Lin;Yu-Fang;Chou;Yen-Yin;Tsai;Meng-Che

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