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机构 日期 题名 作者
臺大學術典藏 2022-05-14T23:35:54Z 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; NI-CHUNG LEE; Chou, Yen Yin
臺大學術典藏 2022-03-10T05:38:25Z PAX2 Mutation-Related Renal Hypodysplasia: Review of the Literature and Three Case Reports Chang, Yu-Ming; Chen, Chih-Chia; NI-CHUNG LEE; Sung, Junne-Ming; Chou, Yen-Yin; Chiou, Yuan-Yow
國立成功大學 2021-04 Postnatal serum total thyroxine of very preterm infants and long-term neurodevelopmental outcome 林永傑; 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
國立交通大學 2020-07-01T05:22:08Z Earlier and higher dosing of alglucosidase alfa improve outcomes in patients with infantile -onset Pompe disease: Evidence from real -world experiences Chien, Yin-Hsiu; Tsai, Wen-Hui; Chang, Chaw-Liang; Chiu, Pao-Chin; Chou, Yen-Yin; Tsai, Fuu-Jen; Wong, Siew-Lee; Lee, Ni-Chung; Hwu, Wuh-Liang
臺大學術典藏 2020-02-10T09:00:35Z Causes of death and clinical characteristics of 34 patients with Mucopolysaccharidosis II in Taiwan from 1995-2012 Lin, Hsiang-Yu; Chuang, Chih-Kuang; Huang, Yu-Hsiu; Tu, Ru-Yi; Lin, Fang-Ju; Lin, Shio Jean; Chiu, Pao Chin; Niu, Dau-Ming; Tsai, Fuu-Jen; Hwu, Wuh-Liang; Chien, Yin-Hsiu; Lin, Ju-Li; Chou, Yen-Yin; Tsai, Wen-Hui; Chang, Tung-Ming; Lin, Shuan-Pei; SHAU-PING LIN
臺大學術典藏 2020-02-10T09:00:35Z Long-term galsulfase enzyme replacement therapy in Taiwanese mucopolysaccharidosis VI patients: A case series Lin, Hsiang-Yu; Chuang, Chih-Kuang; Wang, Chung-Hsing; Chien, Yin-Hsiu; Wang, Yu-Mei; Tsai, Fuu-Jen; Chou, Yen-Yin; Lin, Shio Jean; Pan, Hui-Ping; Niu, Dau-Ming; Hwu, Wuh-Liang; Ke, Yu-Yuan; Lin, Shuan-Pei; SHAU-PING LIN
國立交通大學 2019-12-13T01:12:23Z Critical Trio Exome Benefits In-Time Decision-Making for Pediatric Patients With Severe Illnesses* Wu, En-Ting; Hwu, Wuh-Liang; Chien, Yin-Hsiu; Hsu, Ching; Chen, Ting-Fu; Chen, Nai-Qi; Chou, Hung-Chieh; Tsao, Po-Nien; Fan, Pi-Chuan; Tsai, I-Jung; Lin, Shuan-Pei; Hsieh, Wu-Shiun; Chang, Tung-Ming; Chen, Chi-Nien; Lee, Chen-Hao; Chou, Yen-Yin; Chiu, Pao-Chin; Tsai, Wen-Hui; Hsiung, Hann-Chang; Lai, Feipei; Lee, Ni-Chung
臺大學術典藏 2019-09-09T00:55:33Z Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese NI-CHUNG LEE;Ho, Matthew Sai Pong;Chung, Brian Hon Yin;Yu, Mullin Ho Chung;Lin, Shuan Pei;Fung, Jasmine Lee Fong;Chong, Shuk Ching;Kwong, Anna Ka Yee;Hui, Joannie;Lam, Wendy;Chan, Victor Chi Man;Tsoi, Cheung;Chou, Yen Yin;Willis, Brooke;Tse, Donald M.L.;Fung, Cheuk Wing;Smeitink, Jan;WUH-LIANG ​​HWU;Rodenburg, Richard J.T.;Mak, Christopher Chun Yu;YIN-HSIU CHIEN;Lai, Sophie;Quinzii, Catarina M.;Kuo, Pao Lin;Yeung, Kit San;Tsang, Mandy Ho Yin; Tsang, Mandy Ho Yin; Yeung, Kit San; Kuo, Pao Lin; Quinzii, Catarina M.; Lai, Sophie; YIN-HSIU CHIEN; Mak, Christopher Chun Yu; Rodenburg, Richard J.T.; WUH-LIANG ??HWU; Smeitink, Jan; Fung, Cheuk Wing; Tse, Donald M.L.; Willis, Brooke; Chou, Yen Yin; Tsoi, Cheung; Chan, Victor Chi Man; Lam, Wendy; Hui, Joannie; Kwong, Anna Ka Yee; Chong, Shuk Ching; Fung, Jasmine Lee Fong; Lin, Shuan Pei; Yu, Mullin Ho Chung; Chung, Brian Hon Yin; Ho, Matthew Sai Pong; NI-CHUNG LEE
臺大學術典藏 2018-09-10T15:37:01Z Causes of death and clinical characteristics of 34 patients with Mucopolysaccharidosis II in Taiwan from 1995-2012 Dr. Segolene Ayme Lin, Hsiang-Yu;Chuang, Chih-Kuang;Huang, Yu-Hsiu;Tu, Ru-Yi;Lin, Fang-Ju;Lin, Shio Jean;Chiu, Pao Chin;Niu, Dau-Ming;Tsai, Fuu-Jen;Hwu, Wuh-Liang;Chien, Yin-Hsiu;Lin, Ju-Li;Chou, Yen-Yin;Tsai, Wen-Hui;Chang, Tung-Ming;Lin, Shuan-Pei; Lin, H.-Y. and Chuang, C.-K. and Huang, Y.-H. and Tu, R.-Y. and Lin, F.-J. and Lin, S.J. and Chiu, P.C. and Niu, D.-M. and Tsai, F.-J. and Hwu, W.-L. and Chien, Y.-H. and Lin, J.-L. and Chou, Y.-Y. and Tsai, W.-H. and Chang, T.-M. and Lin, S.-P.; 胡務亮;簡穎秀; YIN-HSIU CHIEN; Lin, Hsiang-Yu; Chuang, Chih-Kuang; WUH-LIANG HWU; Huang, Yu-Hsiu; Tu, Ru-Yi; Lin, Fang-Ju; Lin, Shio Jean; Chiu, Pao Chin; Niu, Dau-Ming; Tsai, Fuu-Jen; Hwu, Wuh-Liang; Chien, Yin-Hsiu; Lin, Ju-Li; Chou, Yen-Yin; Tsai, Wen-Hui; Chang, Tung-Ming; Lin, Shuan-Pei
國立成功大學 2016-06-27 Causes of death and clinical characteristics of 34 patients with Mucopolysaccharidosis II in Taiwan from 1995-2012 Lin, Hsiang-Yu;Chuang, Chih-Kuang;Huang, Yu-Hsiu;Tu, Ru-Yi;Lin, Fang-Ju;Lin, Shio Jean;Chiu, Pao Chin;Niu, Dau-Ming;Tsai, Fuu-Jen;Hwu, Wuh-Liang;Chien, Yin-Hsiu;Lin, Ju-Li;Chou, Yen-Yin;Tsai, Wen-Hui;Chang, Tung-Ming;Lin, Shuan-Pei

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