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Institution Date Title Author
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
國立成功大學 2016-06 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
國立成功大學 2016-05 Partial trisomy of chromosome 21 without the Down syndrome phenotype Su, Mei-Tsz; Kuan, Long-Ching; Chou, Yen-Yin; Tan, Shang-Yi; Kuo, Tsung-Cheng; Kuo, Pao-Lin
國立成功大學 2016-01-30 Measuring propionyl-CoA carboxylase activity in phytohemagglutinin stimulated lymphocytes using high performance liquid chromatography Liu, Yu-Ning;Liu, Tze-Tze;Fan, Ya-Ling;Niu, Dau-Ming;Chien, Yin-Hsiu;Chou, Yen-Yin;Lee, Ni-Chung;Hsiao, Kwang-Jen;Chiu, Yen-Hui
國立臺灣大學 2016 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; 胡務亮; 簡穎秀
國立成功大學 2015-10 Risk Factors for Hyperglycemia During Chemotherapy for Acute Lymphoblastic Leukemia Among Taiwanese Children Tsai, Meng-Che; Huang, Hsin-Hui; Chou, Yen-Yin; Cheng, Chao-Neng; Chen, Jiann-Shiuh; Lin, Shio-Jean
國立成功大學 2015-08 Type B Interrupted Aortic Arch and Hydrocephalus Associated with Mosaicism of a 1.37 Mb Amplified Cat Eye Syndrome Critical Region Tsai, Meng-Che; Chou, Yen-Yin; Wang, Jieh-Neng; Wu, Jing-Ming; Huang, Chao-Ching; Kuo, Pao-Lin; Tsai, Yi-Shan
國立成功大學 2015-06-01 Developing an intervention strategy to reduce phthalate exposure in Taiwanese girls Chen, Chung-Yu; Chou, Yen-Yin; Lin, Shio-Jean; Lee, Ching-Chang
國立成功大學 2014-02 Exploration of health status, healthcare utilization, and health service expectations among Taiwanese adolescents Tsai, Meng-Che; Lin, Sheng-Hsiang; Chou, Yen-Yin; Lin, Shio-Jean
國立成功大學 2013-10-03 Trends in diabetes mellitus among Taiwanese adolescents and young adults during 2000-2009: a national population-based cohort study Tsai, Meng-Che; Chang, Chih-Ching; Chou, Yen-Yin; Lin, Shio-Jean; Lin, Sheng-Hsiang
國立成功大學 2013-10 Phthalates may promote female puberty by increasing kisspeptin activity Chen, Chung-Yu; Chou, Yen-Yin; Wu, Yu-Min; Lin, Chan-Chau; Lin, Shio-Jean; Lee, Ching-Chang
國立成功大學 2013-01 Factors associated with adolescents' perspectives on health needs and preference for health information sources in Taiwan Tsai, Meng-Che; Chou, Yen-Yin; Lin, Shio-Jean; Lin, Sheng-Hsiang
國立成功大學 2012-04 A novel SRD5A2 mutation in a Taiwanese newborn with ambiguous genitalia Tsai, Meng-Che; Chou, Yen-Yin; Lin, Shio-Jean; Tsai, Li-Ping
國立成功大學 2012-04 Sex-reversed Acampomelic Campomelic Dysplasia With a Homozygous Deletion Mutation in SOX9 Gene Chen, Shou-Yen; Lin, Shio-Jean; Tsai, Li-Ping; Chou, Yen-Yin
國立成功大學 2011-06 Assessment of experience and training needs in adolescent medicine: Perspectives from pediatricians Tsai, Meng-Che;Chou, Yen-Yin;Lin, Shio-Jean
國立成功大學 2011-05 Complex Chromosome Rearrangement 46,XY, der(9)t(Y;9)(q12;p23) in a Girl With Sex Reversal and Mental Retardation Lee, I-Wen; Chou, Yen-Yin; Hsu, Keng-Fu; Chou, Pei-Yi; Chen, Ming; Kuo, Pao-Lin; Lin, Shio-Jean
國立成功大學 2011-02-20 High resolution melting analysis for the detection of SLC25A13 gene mutations in Taiwan Lin, Jing-Ting; Hsiao, Kwang-Jen; Chen, Chiung-Yu; Wu, Cheng-Chung; Lin, Shio-Jean; Chou, Yen-Yin; Shiesh, Shu-Chu
國立成功大學 2009-01 Association between prenatal exposure to phthalates and the health of newborns Huang, Po-Chin; Kuo, Pao-Lin; Chou, Yen-Yin; Lin, Shio-Jean; Lee, Ching-Chang
國立成功大學 2009-01 Phthalate Exposure in Girls During Early Puberty Chou, Yen-Yin; Huang, Po-Chin; Lee, Ching-Chang; Wu, Meng-Hsing; Lin, Shio-Jean
國立成功大學 2005-07 Clinical suppression of precocious puberty with cetrorelix after failed treatment with GnRH agonist in a girl with gonadotrophin-independent precocious puberty Wu, Meng-Hsing; Lin, Shio-Jean; Wu, Li-Hsiang; Cheng, Yueh-Chin; Chou, Yen-Yin; Pan, Hsien-An
國立成功大學 2005-04 A 38.8 kb deletion mutation of the iduronate-2-sulfatase gene in a patient with Hunter syndrome Chou, Yen-Yin; Chao, Sheau-Chiou; Kuo, Pan-Lin; Lin, Shio-Jean
國立成功大學 2004-10 Russell-Silver syndrome: Molecular diagnosis of maternal uniparental disomy of chromosome 7 using methylation, specific polymerase chain reaction assay and single nucleotide polymorphisms genotyping Chou, Yen-Yin; Chen, Chien-Chang; Kuo, Pao-Lin; Tsai, Wen-Hui; Lin, Shio-Jean

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