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公開日期標題作者
9-二月-2017Comprehensive target capture/next-generation sequencing as a second-tier diagnostic approach for congenital muscular dystrophy in TaiwanLiang, Wen-Chen; Tian, Xia; Yuo, Chung-Yee; Chen, Wan-Zi; Kan, Tsu-Min; Su, Yi-Ning; Nishino, Ichizo; Wong, Lee-Jun C.; Jong, Yuh-Jyh; 生醫工程研究所; Institute of Biomedical Engineering
28-八月-2015Congenital muscular dystrophy with fatty liver and infantile-onset cataract caused by TRAPPC11 mutations: broadening of the phenotypeLiang, Wen-Chen; Zhu, Wenhua; Mitsuhashi, Satomi; Noguchi, Satoru; Sacher, Michael; Ogawa, Megumu; Shih, Hsiang-Hung; Jong, Yuh-Jyh; Nishino, Ichizo; 生醫工程研究所; Institute of Biomedical Engineering
15-二月-2014Development of a feasible assay for the detection of GAA mutations in patients with Pompe diseaseEr, Tze-Kiong; Chen, Chih-Chieh; Chien, Yin-Hsiu; Liang, Wen-Chen; Kan, Tzu-Min; Jong, Yuh-Jyh; 生物科技學系; 生物資訊及系統生物研究所; Department of Biological Science and Technology; Institude of Bioinformatics and Systems Biology
1-五月-2011IDENTIFICATION A NOVEL MISSENSE MUTATION P.F128S IN A TAIWANESE PATIENT WITH RIBOFLAVIN-RESPONSIVE MULTIPLE ACYL-COA DEHYDROGENASE DEFIENCYEr, Tze-Kiong; Liang, Wen-Chen; Chen, Chih-Chieh; Liu, Ta-Chi; Chang, Jan-Gowth; Jong, Yuh-Jyh; 生物資訊及系統生物研究所; Institude of Bioinformatics and Systems Biology
1-八月-2013Limb-girdle muscular dystrophy type 21 is not rare in TaiwanLiang, Wen-Chen; Hayashi, Yukiko K.; Ogawa, Megumu; Wang, Chien-Hua; Huang, Wan-Ting; Nishino, Ichizo; Jong, Yuh-Jyh; 生醫工程研究所; Institute of Biomedical Engineering
1-四月-2018The natural history of the patients with Duchenne muscular dystrophy in Taiwan: A medical center experienceLiang, Wen-Chen; Wang, Chen-Hua; Chou, Po-Ching; Chen, Wan-Zi; Jong, Yuh-Jyh; 生醫工程研究所; Institute of Biomedical Engineering
1-九月-2017NEURITE GROWTH COULD BE IMPAIRED BY ETFDH MUTATION BUT RESTORED BY MITOCHONDRIAL COFACTORSLiang, Wen-Chen; Lin, Yen-Fong; Liu, Ting-Yuan; Chang, Shin-Cheng; Chen, Bai-Hsiun; Nishino, Ichizo; Jong, Yuh-Jyh; 生醫工程研究所; Institute of Biomedical Engineering
1-二月-2017Pediatric necrotizing myopathy associated with anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase antibodiesLiang, Wen-Chen; Uruha, Akinori; Suzuki, Shigeaki; Murakami, Nobuyuki; Takeshita, Eri; Chen, Wan-Zi; Jong, Yuh-Jyh; Endo, Yukari; Komaki, Hirofumi; Fujii, Tatsuya; Kawano, Yutaka; Mori-Yoshimura, Madoka; Oya, Yasushi; Xi, Jianying; Zhu, Wenhua; Zhao, Chongbo; Watanabe, Yurika; Ikemoto, Keisuke; Nishikawa, Atsuko; Hamanaka, Kohei; Mitsuhashi, Satomi; Suzuki, Norihiro; Nishino, Ichizo; 生物科技學系; Department of Biological Science and Technology
15-三月-2016Probable high prevalence of limb-girdle muscular dystrophy type 2D in TaiwanLiang, Wen-Chen; Chou, Po-Ching; Hung, Chia-Cheng; Su, Yi-Ning; Kan, Tsu-Min; Chen, Wan-Zi; Hayashi, Yukiko K.; Nishino, Ichizo; Jong, Yuh-Jyh; 生物科技學系; 生醫工程研究所; Department of Biological Science and Technology; Institute of Biomedical Engineering
1-十二月-2014Reliability and Validity of Outcome Measures of In-Hospital and At-Home Visits in a Randomized, Double-Blind, Placebo-Controlled Trial for Spinal Muscular AtrophyChen, Tai-Heng; Yang, Yi-Hsin; Mai, Hui-Hsia; Liang, Wen-Chen; Wu, Yi-Ching; Wang, Hui-Yi; Jong, Yuh-Jyh; 生物科技學系; Department of Biological Science and Technology
顯示 3 到 12 筆資料，總共 12 筆 < 上一頁