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Showing items 31-55 of 97  (4 Page(s) Totally)
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Institution Date Title Author
國立交通大學 2017-04-21T06:56:37Z An Integrative Transcriptomic Analysis for Identifying Novel Target Genes Corresponding to Severity Spectrum in Spinal Muscular Atrophy Yang, Chung-Wei; Chen, Chien-Lin; Chou, Wei-Chun; Lin, Ho-Chen; Jong, Yuh-Jyh; Tsai, Li-Kai; Chuang, Chun-Yu
國立交通大學 2017-04-21T06:56:37Z Comprehensive target capture/next-generation sequencing as a second-tier diagnostic approach for congenital muscular dystrophy in Taiwan Liang, 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
國立交通大學 2017-04-21T06:56:34Z Securinine enhances SMN2 exon 7 inclusion in spinal muscular atrophy cells Chen, Yu-Chia; Chang, Jan-Gowth; Liu, Ting-Yuan; Jong, Yuh-Jyh; Cheng, Wei-Lin; Yuo, Chung-Yee
國立交通大學 2017-04-21T06:56:21Z Loganin possesses neuroprotective properties, restores SMN protein and activates protein synthesis positive regulator Akt/mTOR in experimental models of spinal muscular atrophy Tseng, Yu-Ting; Chen, Cheng-Sheng; Jong, Yuh-Jyh; Chang, Fang-Rong; Lo, Yi-Ching
國立交通大學 2017-04-21T06:56:10Z Identification of KLHL40 mutations by targeted next-generation sequencing facilitated a prenatal diagnosis in a family with three consecutive affected fetuses with fetal akinesia deformation sequence Chen, Tai-Heng; Tian, Xia; Kuo, Pao-Lin; Pan, Hui-Ping; Wong, Lee-Jun C.; Jong, Yuh-Jyh
國立交通大學 2017-04-21T06:56:09Z Muscle developmental defects in heterogeneous nuclear Ribonucleoprotein A1 knockout mice Liu, Ting-Yuan; Chen, Yu-Chia; Jong, Yuh-Jyh; Tsai, Huai-Jen; Lee, Chien-Chin; Chang, Ya-Sian; Chang, Jan-Gowth; Chang, Yung-Fu
國立交通大學 2017-04-21T06:55:38Z Selective Neuromuscular Denervation in Taiwanese Severe SMA Mouse Can Be Reversed by Morpholino Antisense Oligonucleotides Lin, Te-Lin; Chen, Tai-Heng; Hsu, Ya-Yun; Cheng, Yu-Hua; Juang, Bi-Tzen; Jong, Yuh-Jyh
國立交通大學 2017-04-21T06:55:37Z Increased risks of tic disorders in children with epilepsy: A nation-wide population-based case control study in Taiwan Weng, Wen-Chin; Huang, Hui-Ling; Wong, Lee Chin; Jong, Yuh-Jyh; Yin, Yun-Ju; Chen, Hong-An; Lee, Wang-Tso; Ho, Shinn-Ying
國立交通大學 2017-04-21T06:55:36Z Increased risk of epilepsy in children with Tourette syndrome: A population-based case-control study Wong, Lee Chin; Huang, Hui-Ling; Weng, Wen-Chin; Jong, Yuh-Jyh; Yin, Yun-Ju; Chen, Hong-An; Lee, Wang-Tso; Ho, Shinn-Ying
國立交通大學 2017-04-21T06:55:34Z Identification of KLHL40 mutations by targeted next-generation sequencing facilitated a prenatal diagnosis in a family with three consecutive affected fetuses with fetal akinesia deformation sequence Chen, Tai-Heng; Tian, Xia; Kuo, Pao-Lin; Pan, Hui-Ping; Wong, Lee-Jun C.; Jong, Yuh-Jyh
國立交通大學 2016-03-28T00:04:20Z The human gut microbiome profile in health and adenoma-carcinoma sequence Yang, Tzu-Wei; Tsai, Ming-Chang; Wang, Chi-Chih; Chang, Ming-Hui; Chen, Tan-Hsia; Lee, Wei-Hsiang; Huang, Hsien-Da; Jong, Yuh-Jyh; Lin, Chun-Che
高雄醫學大學 2016 馬錢子 具神經保護特性,在脊髓性肌肉萎縮症實驗模式中能回復SMN蛋白質並活化蛋白質合成Akt/mTOR 曾于庭;陳正生;鐘育志;張芳榮;羅怡卿; Tseng, Yu-Ting;Chen, Cheng-Sheng;Jong, Yuh-Jyh;Chang, Fang-Rong;Lo, Yi-Ching
國立臺灣大學 2016 Increased risks of tic disorders in children with epilepsy: A nation-wide population-based case control study in Taiwan Weng, Wen-Chin; Huang, Hui-Ling; Wong, Lee Chin; Jong, Yuh-Jyh; Yin, Yun-Ju; Chen, Hong-An; Lee, Wang-Tso; Ho, Shinn-Ying; 李旺祚; 翁妏謹
國立臺灣大學 2016 Increased risk of epilepsy in children with Tourette syndrome: A population-based case-control study Wong, Lee Chin; Huang, Hui-Ling; Weng, Wen-Chin; Jong, Yuh-Jyh; Yin, Yun-Ju; Chen, Hong-An; Lee, Wang-Tso; Ho, Shinn-Ying; 李旺祚; 翁妏謹
國立臺灣大學 2016 3-O-methyldopa levels in newborns: Result of newborn screening for aromatic L-amino-acid decarboxylase deficiency Chien, Yin-Hsiu; Chen, Pin-Wen; Lee, Ni-Chung; Hsieh, Wu-Shiun; Chiu, Pao-Chin; Hwu, Wuh-Liang; Tsai, Fuu-Jen; Lin, Shuan-Pei; Chu, Shao-Yin; Jong, Yuh-Jyh; Chao, Mei-Chyn; 胡務亮; 謝武勳; 李妮鍾; 簡穎秀
國立交通大學 2015-12-02T02:59:11Z Label-Free Fluorescent Copper Nanoclusters for Genotyping of Deletion and Duplication of Duchenne Muscular Dystrophy Chen, Chung-An; Wang, Chun-Chi; Jong, Yuh-Jyh; Wu, Shou-Mei
國立交通大學 2015-07-21T11:20:24Z Genotyping of exons 1 to 20 in Duchenne muscular dystrophy by universal multiplex PCR and short-end capillary electrophoresis Syu, Jing-Rou; Wang, Chun-Chi; Jong, Yuh-Jyh; Wu, Shou-Mei
國立交通大學 2015-07-21T08:28:19Z Reliability and Validity of Outcome Measures of In-Hospital and At-Home Visits in a Randomized, Double-Blind, Placebo-Controlled Trial for Spinal Muscular Atrophy Chen, Tai-Heng; Yang, Yi-Hsin; Mai, Hui-Hsia; Liang, Wen-Chen; Wu, Yi-Ching; Wang, Hui-Yi; Jong, Yuh-Jyh
高雄醫學大學 2015 High Expression Level of Tra2-β1 Is Responsible for Increased SMN2 Exon 7 Inclusion in the Testis of SMA Mice 陳郁佳;張建國;鐘育志;劉鼎元;游仲逸; Chen, Yu-Chia;Chang, Jan-Gowth;Jong, Yuh-Jyh;Liu, Ting-Yuan;Yuo, Chung-Yee
國立交通大學 2014-12-08T15:36:47Z Methodological considerations in combined noninvasive ventilation and mechanical inexsufflator Hsu, Jong-Hau; Chen, Tai-Heng; Jong, Yuh-Jyh
國立交通大學 2014-12-08T15:36:30Z Community-Acquired Pneumonia in Pediatric Patients With Acute Neuromuscular Respiratory Failure: A Microbiologic Perspective Hsu, Jong-Hau; Chen, Tai-Heng; Jong, Yuh-Jyh
國立交通大學 2014-12-08T15:36:18Z Universal fluorescent tri-probe ligation equipped with capillary electrophoresis for targeting SMN1 and SMN2 genes in diagnosis of spinal muscular atrophy Wang, Chun-Chi; Shih, Chi-Jen; Jong, Yuh-Jyh; Wu, Shou-Mei
國立交通大學 2014-12-08T15:36:14Z A "turn on/off" scorpion biosensor targeting point mutation of SMN genes for diagnosis of spinal muscular atrophy Chen, Chung-An; Wang, Chun-Chi; Chen, Yen-Ling; Jong, Yuh-Jyh; Wu, Shou-Mei
國立交通大學 2014-12-08T15:36:04Z Combined Noninvasive Ventilation and Mechanical In-Exsufflator in the Treatment of Pediatric Acute Neuromuscular Respiratory Failure Chen, Tai-Heng; Hsu, Jong-Hau; Wu, Jiunn-Ren; Dai, Zen-Kong; Chen, I-Chen; Liang, Wen-Chen; Yang, San-Nan; Jong, Yuh-Jyh
國立交通大學 2014-12-08T15:34:59Z Development of a feasible assay for the detection of GAA mutations in patients with Pompe disease Er, Tze-Kiong; Chen, Chih-Chieh; Chien, Yin-Hsiu; Liang, Wen-Chen; Kan, Tzu-Min; Jong, Yuh-Jyh

Showing items 31-55 of 97  (4 Page(s) Totally)
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