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收藏Applications of a rapid real time analysis system for whole genome/exome sequencing in newborn screening全基因组/外显子组测序快速实时分析系统在新生儿筛查中的应用
Chen, Yun-Ru; Cheng, Chihya; Lu, Yung-Hsiu; Chiang, Yu-Ting; Liu, Chuan-Kun; Chiu, Yao-Te; Hsiao, Fang-Chih; Lai, Jui Teng; Kuei, Li Chung; Yao, Adam; Niu, Dau-Ming
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收藏Implementation of newborn screening for mucopolysaccharidosis type IVA and long-term monitoring in Taiwan
Lin, Hsiang-Yu; Lee, Chung-Lin; Chang, Ya-Hui; Tu, Yuan-Rong; Lo, Yun-Ting; Wu, Jun-Yi; Niu, Dau-Ming; Liu, Mei-Ying; Liu, Hsin-Yun; Chen, Hsiao-Jan; Kao, Shu-Min; Wang, Li-Yun; Ho, Huey-Jane; Chuang, Chih-Kuang; Lin, Shuan-Pei
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收藏Quantitative DNA Methylation Analysis and Epigenotype-Phenotype Correlations in Taiwanese Patients with Silver-Russell Syndrome
Lin, Hsiang -Yu; Lee, Chung-Lin; Tu, Yuan-Rong; Chang, Ya-Hui; Niu, Dau-Ming; Chang, Chia-Ying; Chiu, Pao Chin; Chou, Yen -Yin; Hsiao, Hui -Pin; Tsai, Meng-Che; Chao, Mei-Chyn; Tsai, Li -Ping; Yang, Chia-Feng; Su, Pen-Hua; Pan, Yu -Wen; Lee, Chen-Hao; Chu, Tzu-Hung; Chuang, Chih-Kuang; Lin, Shuan-Pei
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收藏Consensus recommendations for the treatment and management of patients with Fabry disease on migalastat: a modified Delphi study
Bichet, Daniel G.; Hopkin, Robert J.; Aguiar, Patricio; Allam, Sridhar R.; Chien, Yin-Hsiu; Giugliani, Roberto; Kallish, Staci; Kineen, Sabina; Lidove, Olivier; Niu, Dau-Ming; Olivotto, Iacopo; Politei, Juan; Rakoski, Paul; Torra, Roser; Tondel, Camilla; Hughes, Derralynn A.
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收藏Newborn Screening Program for Mucopolysaccharidosis Type II and Long-Term Follow-Up of the Screen-Positive Subjects in Taiwan
Lin, Hsiang-Yu; Chang, Ya-Hui; Lee, Chung-Lin; Tu, Yuan-Rong; Lo, Yun-Ting; Hung, Pei-Wen; Niu, Dau-Ming; Liu, Mei-Ying; Liu, Hsin-Yun; Chen, Hsiao-Jan; Kao, Shu-Min; Wang, Li-Yun; Ho, Huey-Jane; Chuang, Chih-Kuang; Lin, Shuan-Pei
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收藏Twenty years of the Fabry Outcome Survey (FOS): insights, achievements, and lessons learned from a global patient registry
Beck, Michael; Ramaswami, Uma; Hernberg-Stahl, Elizabeth; Hughes, Derralynn A.; Kampmann, Christoph; Mehta, Atul B.; Nicholls, Kathleen; Niu, Dau-Ming; Pintos-Morell, Guillem; Reisin, Ricardo; West, Michael L.; Schenk, Jorn; Anagnostopoulou, Christina; Botha, Jaco; Giugliani, Roberto
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