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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机构	日期	题名	作者
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

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