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臺灣學術機構典藏系統 (Taiwan Academic Institutional Repository, TAIR)
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Showing items 21-37 of 37  (2 Page(s) Totally)
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Institution Date Title Author
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
國立交通大學 2014-12-08T15:09:00Z Turner syndrome phalangeal screening based on a two-stage linear regression concept Tiu, Chui-Mei; Liu, Tzu-Chiang; Hsieh, Chi-Wen; Niu, Dau-Ming; Chen, Jen-Dar; Jong, Tai-Lang
國立成功大學 2014-11 Electroencephalography and transcranial Doppler ultrasonography in neonatal citrullinemia Su, Pen-Hua; Chen, Jia-Yuh; Chen, Yung-Jung; Niu, Dau-Ming; Hsu, Ju-Hui; Lee, Inn-Chi
國立臺灣大學 2014 Natural history and clinical assessment of Taiwanese patients with mucopolysaccharidosis IVA Lin, Hsiang-Yu; Chuang, Chih-Kuang; Chen, Ming-Ren; Chiu, Pao Chin; Ke, Yu-Yuan; Niu, Dau-Ming; Tsai, Fuu-Jen; Hwu, Wuh-Liang; Lin, Ju-Li; Lin, Shuan-Pei; 胡務亮
國立臺灣大學 2013 Enzyme replacement therapy for mucopolysaccharidosis VI-experience in Taiwan (vol 98, pg 72, 2009) Lin, Hsiang-Yu; Chen, Ming-Ren; Chuang, Chih-Kuang; Chen, Chih-Ping; Lin, Dar-Shong; Chien, Yin-Hsiu; Ke, Yu-Yuan; Tsai, Fuu-Jen; Pan, Hui-Ping; Lin, Shio-Jean; Hwu, Wuh-Liang; Niu, Dau-Ming; Lee, Ni-Chung; Lin, Shuan-Pei; 胡務亮; 李妮鍾; 簡穎秀
國立臺北護理健康大學 2012 Family Caregiver Distress with Children having Rare Genetic Disorders: A Qualitative Study involving Russell-Silver Syndrome in Taiwan 曹麗英; Weng Hsin-Ju;Niu Dau-Ming;Sue Turale;Tsao Lee-Ing;Shih Fu-Jong;Noriko Yamamoto-Mitani;Chang Chun-Chi;Shih Fu-Jin
國立臺灣大學 2010 Newborn Screening for Methylmalonic Aciduria by Tandem Mass Spectrometry: 7 Years' Experience from Two Centers in Taiwan 鄭康祥; 劉美英; 高銓宏; 陳燕彰; 蕭廣仁; 劉孜孜; 林翔宇; 牛道明; 江傳箕; 林如立; 林炫沛; 李妮鍾; 胡務亮; CHENG, KANG-HSIANG; LIU, MEI-YING; KAO, CHUAN-HONG; CHEN, YANN-JANG; HSIAO, KWANG-JEN; LIU, TZE-TZE; LIN, HSIANG-YU; NIU, DAU-MING; CHIANG, CHUAN-CHI; LIN, JU-LI; LIN, SHUAN-PEI; LEE, NI-CHUNG; HWU, WUH-LIANG
國立臺灣大學 2010 Nationwide Survey of Extended Newborn Screening by Tandem Mass Spectrometry in Taiwan 牛道明; 簡穎秀; 江傳箕; 何慧珍; 胡務亮; 蔣思慧; 高銓宏; 劉孜孜; 江宏; 蕭廣仁; NIU, DAU-MING; CHIEN, YIN-HSIU; CHIANG, CHUAN-CHI; HO, HUI-CHEN; HWU, WUH-LIANG; CHIANG, SZU-HUI; KAO, CHUAN-HONG; LIU, TZE-TZE; CHIANG, HUNG; HSIAO, KWANG-JEN
國立成功大學 2009-05 Incidence of the Mucopolysaccharidoses in Taiwan, 1984-2004 Lin, Hsiang-Yu; Lin, Shuan-Pei; Chuang, Chih-Kuang; Niu, Dau-Ming; Chen, Ming-Ren; Tsai, Fuu-Jen; Chao, Mei-Chyn; Chiu, Pao-Ching; Lin, Shio-Jean; Tsai, Li-Ping; Hwu, Wuh-Liang; Lin, Ju-Li
國立臺灣大學 2009 Mutation Spectrum of the Fibrillin-1 (Fbn1) Gene in Taiwanese Patients with Marfan Syndrome 洪加政; 李建南; 鄭惠予; 林炫沛; 陳銘仁; 陳持平; 張千慧; 游治節; 邱馨慧; 鄭文芳; 何弘能; 牛道明; 蘇怡寧; HUNG, CHIA-CHENG; LEE, CHIEN-NAN; CHENG, HUI-YU; LIN, SHUAN-PEI; CHEN, MING-REN; CHEN, CHIH-PING; CHANG, CHIEN-HUI; YU, CHIH- CHIEH; CHIU, HSIN-HUI; CHENG, WEN-FANG; HO, HONG-NERNG; NIU, DAU-MING; SU, YI-NING
國立臺灣大學 2009 Identification of Fibrillin-1 Gene Mutations in Marfan Syndrome by High- Resolution Melting Analysis 洪加政; 林芯; 李建南; 鄭惠予; 林久雅; 張千慧; 邱馨慧; 游治節; 林炫沛; 鄭文芳; 何弘能; 牛道明; 蘇怡寧; HUNG, CHIA-CHENG; LIN, SHIN-YU; LEE, CHIEN-NAN; CHENG, HUI-YU; LIN, CHIOU-YA; CHANG, CHIEN-HUI; CHIU, HSIN-HUI; YU, CHIH-CHIEH; LIN, SHUAN-PEI; CHENG, WEN-FANG; HO, HONG-NERNG; NIU, DAU-MING; SU, YI-NING
國立臺灣大學 2009 Identification of Cpg Methylation of the Snrpn Gene by Methylation- Specific Multiplex Pcr 洪加政; 林芯伃; 林炫沛; 牛道明; 李妮鍾; 鄭文芳; 陳持平; 林文澧; 李建南; 蘇怡寧; HUNG, CHIA-CHENG; LIN, SHIN-YU; LIN ,SHUAN-PEI; NIU, DAU-MING; LEE, NI-CHUNG; CHENG, WEN-FANG; CHEN, CHIH-PING; LIN, WIN-LI; LEE, CHIEN-NAN; SU, YI-NING
國立成功大學 2008-04 Low frequency of the CYP21A2 deletion in ethnic Chinese (Taiwanese) patients with 21-hydroxylase deficiency Lee, Hsien-Hsiung; Lee, Yann-Jinn; Wang, Yu-Mei; Chao, Hsiang-Tai; Niu, Dau-Ming; Chao, Mei-Chyn; Tsai, Fuu-Jen; Lo, Fu-Sung; Lin, Shio-Jean
高雄醫學大學 2008 Low frequency of the CYP21A2 deletion in ethnic Chinese (Taiwanese) patients with 21-hydroxylase deficiency.  李賢雄;趙美琴; Lee, Hsien-Hsiung;Lee, Yann-Jinn;Wang, Yu-Mei;Chao, Hsiang-Tai;Niu, Dau-Ming;Chao, Mei-Chyn;Tsai, Fuu-Jen;Lo, Fu-Sung;Lin , Shio-Jean
國立成功大學 2007-06 Prader-Willi syndrome in Taiwan Lin, Hsiang-Yu; Lin, Shuan-Pei; Yen, Jui-Lung; Lee, Yann-Jinn; Huang, Chi-Yu; Hung, Han-Yang; Hsu, Chyong-Hsin; Kao, Hsin-An; Chang, Jui-Hsing; Chiu, Nan-Chang; Ho, Che-Sheng; Chao, Mei-Chyn; Niu, Dau-Ming; Tsai, Li-Ping; Kuo, Pao-Lin
國立成功大學 2007-06 Genotype and phenotype in patients with Prader-Willi Syndrome in Taiwan Lin, Hsiang-Yu; Lin, Shuan-Pei; Chuang, Chih-Kuang; Chen, Ming-Ren; Yen, Jui-Lung; Lee, Yann-Jinn; Huang, Chi-Yu; Tsai, Li-Ping; Niu, Dau-Ming; Chao, Mei-Chyn; Kuo, Pao-Lin
高雄醫學大學 2007 Genotype and phenotype in patients with Prader-Willi Syndrome in Taiwan.  林翔宇;蔡立平;趙美琴;郭保麟 ; Lin, Hsiang-Yu;Lin, Shuan-Pei;Chuang, Chih-Kuang;Chen, Ming-Ren;Yen, Jui-Lung;Lee, Yann-Jinn;Huang, Chi-Yu;Tsai, Li-Ping;Niu, Dau-Ming;Chao, Mei-Chyn;Kuo , Pao-Lin

Showing items 21-37 of 37  (2 Page(s) Totally)
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