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Showing items 1-35 of 35 (1 Page(s) Totally)
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| 臺大學術典藏 |
2022-09-19T07:17:43Z |
Mutation spectrum of the fibrillin-1 (FBN1) gene in Taiwanese patients with Marfan syndrome
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Hung, Chia-Cheng; Lin, Shin-Yu; Lee, Chien-Nan; Cheng, Hui-Yu; Lin, Shuan-Pei; Chen, Ming-Ren; Chen, Chih-Ping; Chang, Chien-Hui; Lin, Chiou-Ya; CHIH-CHIEH YU; Chiu, Hsin-Hui; Cheng, Wen-Fang; Ho, Hong-Nerng; Niu, Dau-Ming; Su, Yi-Ning |
| 臺大學術典藏 |
2022-09-19T07:14:35Z |
Identification of fibrillin-1 gene mutations in Marfan syndrome by high-resolution melting analysis
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Hung, Chia-Cheng; Lin, Shin-Yu; Lee, Chien-Nan; Cheng, Hui-Yu; Lin, Chiou-Ya; Chang, Chien-Hui; Chiu, Hsin-Hui; CHIH-CHIEH YU; Lin, Shuan-Pei; Cheng, Wen-Fang; Ho, Hong-Nerng; Niu, Dau-Ming; Su, Yi-Ning |
| 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
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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
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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 |
| 臺大學術典藏 |
2020-02-10T09:00:35Z |
Cardiac structure and function and effects of enzyme replacement therapy in patients with mucopolysaccharidoses I, II, IVA and VI
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Lin, Hsiang-Yu; Chuang, Chih-Kuang; Chen, Ming-Ren; Lin, Shan-Miao; Hung, Chung-Lieh; Chang, Chia-Ying; Chiu, Pao Chin; Tsai, Wen-Hui; Niu, Dau-Ming; Tsai, Fuu-Jen; Lin, Shio Jean; Hwu, Wuh-Liang; Lin, Ju-Li; Lin, Shuan-Pei; SHAU-PING LIN |
| 臺大學術典藏 |
2020-02-10T09:00:34Z |
Clinical characteristics and surgical history of Taiwanese patients with mucopolysaccharidosis type II: data from the hunter outcome survey (HOS)
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Lin, Hsiang-Yu; Chuang, Chih-Kuang; Chen, Ming-Ren; Lin, Shio Jean; Chiu, Pao Chin; Niu, Dau-Ming; Tsai, Fuu-Jen; Hwu, Wuh-Liang; Chien, Yin-Hsiu; Lin, Ju-Li; Lin, Shuan-Pei; SHAU-PING LIN |
| 國立交通大學 |
2020-02-02T23:54:29Z |
Relationships among Height, Weight, Body Mass Index, and Age in Taiwanese Children with Different Types of Mucopolysaccharidoses
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Lin, Hsiang-Yu; Lee, Chung-Lin; Chiu, Pao Chin; Niu, Dau-Ming; Tsai, Fuu-Jen; Hwu, Wuh-Liang; Lin, Shio Jean; Lin, Ju-Li; Chang, Tung-Ming; Chuang, Chih-Kuang; Lin, Shuan-Pei |
| 國立交通大學 |
2020-02-02T23:54:29Z |
An At-Risk Population Screening Program for Mucopolysaccharidoses by Measuring Urinary Glycosaminoglycans in Taiwan
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Lin, Hsiang-Yu; Lee, Chung-Lin; Lo, Yun-Ting; Tu, Ru-Yi; Chang, Ya-Hui; Chang, Chia-Ying; Chiu, Pao Chin; Chang, Tung-Ming; Tsai, Wen-Hui; Niu, Dau-Ming; Chuang, Chih-Kuang; Lin, Shuan-Pei |
| 臺大學術典藏 |
2019-10-14T05:56:44Z |
Methylmalonic acidemia/propionic acidemia - the biochemical presentation and comparing the outcome between liver transplantation versus non-liver transplantation groups
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Niu, Dau-Ming;MING-CHIH HO;REY-HENG HU;Liu, Chin-Su;Lin, Shuan-Pei;NI-CHUNG LEE;WUH-LIANG HWU;Yang, Chia-Feng;Lin, Niang-Cheng;Chiang, Chuan-Chi;Lai, Chih-Jou;Ho, Huey-Jane;Liao, Hsuan-Chieh;Lin, Hsiang-Yu;YIN-HSIU CHIEN;Chu, Tzu-Hung; Chu, Tzu-Hung; YIN-HSIU CHIEN; Lin, Hsiang-Yu; Liao, Hsuan-Chieh; Ho, Huey-Jane; Lai, Chih-Jou; Chiang, Chuan-Chi; Lin, Niang-Cheng; Yang, Chia-Feng; WUH-LIANG ??HWU; NI-CHUNG LEE; Lin, Shuan-Pei; Liu, Chin-Su; REY-HENG HU; MING-CHIH HO; Niu, Dau-Ming |
| 國立交通大學 |
2019-09-02T07:46:11Z |
Functional independence of Taiwanese patients with mucopolysaccharidoses
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Lee, Chung-Lin; Lin, Hsiang-Yu; Chuang, Chih-Kuang; Chiu, Huei-Ching; Tu, Ru-Yi; Huang, You-Hsin; Hwu, Wuh-Liang; Tsai, Fuu-Jen; Chiu, Pao-Chin; Niu, Dau-Ming; Chen, Yann-Jang; Chao, Mei-Chyn; Chang, Tung-Ming; Lin, Ju-Li; Chang, Chia-Ying; Kao, Yu-Chia; Lin, Shuan-Pei |
| 國立交通大學 |
2019-08-02T02:18:30Z |
Cardiac characteristics and natural progression in Taiwanese patients with mucopolysaccharidosis III
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Lin, Hsiang-Yu; Chen, Ming-Ren; Lin, Shan-Miao; Hung, Chung-Lieh; Niu, Dau-Ming; Chang, Tung-Ming; Chuang, Chih-Kuang; Lin, Shuan-Pei |
| 國立交通大學 |
2019-04-02T06:00:47Z |
Mucopolysaccharidosis III in Taiwan: Natural history, clinical and molecular characteristics of 28 patients diagnosed during a 21-year period
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Lin, Hsiang-Yu; Chuang, Chih-Kuang; Lee, Chung-Lin; Tu, Ru-Yi; Lo, Yun-Ting; Chiu, Pao Chin; Niu, Dau-Ming; Fang, Yi-Ya; Chen, Tzu-Lin; Tsai, Fuu-Jen; Hwu, Wuh-Liang; Lin, Shio Jean; Chang, Tung-Ming; Lin, Shuan-Pei |
| 臺大學術典藏 |
2019-01-05T07:20:19Z |
Epigenetic profiling of the H19 differentially methylated region and comprehensive whole genome array-based analysis in Silver-Russell syndrome
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Kuo, Pei-Wen;Tu, Mei-Pin;Fang, Mei-Ya;Chen, Lang-Yao;Niu, Dau-Ming;Li, Ni-Chung;Lin, Shuan-Pei;Su, Yi-Ning;Hung, Chia-Cheng;Lin, Chiou-Ya;HONG-NERNG HO;WEN-MING HSU;YI-CHING TUNG;WU-SHIUN HSIEH;WEN-YU TSAI;CHIEN-NAN LEE;SHIN-YU LIN; SHIN-YU LIN; CHIEN-NAN LEE; Hung, Chia-Cheng; WEN-YU TSAI; Lin, Shuan-Pei; Li, Ni-Chung; WU-SHIUN HSIEH; YI-CHING TUNG; Niu, Dau-Ming; WEN-MING HSU; Chen, Lang-Yao; Fang, Mei-Ya; Tu, Mei-Pin; Kuo, Pei-Wen; Lin, Chiou-Ya; Su, Yi-Ning; HONG-NERNG HO |
| 臺大學術典藏 |
2019 |
Long-term effects of enzyme replacement therapy for Taiwanese patients with mucopolysaccharidosis IVA
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Chuang, Chih-Kuang; Lin, Hsiang-Yu; Lin, Hsiang-Yu;Chuang, Chih-Kuang;Ke, Yu-Yuan;Hsu, Chia-Chi;Chiu, Pao Chin;Niu, Dau-Ming;Tsai, Fuu-Jen;Hwu, Wuh-Liang;Lin, Ju-Li;Lin, Shuan-Pei; Ke, Yu-Yuan; Hsu, Chia-Chi; Chiu, Pao Chin; Niu, Dau-Ming; Tsai, Fuu-Jen; Hwu, Wuh-Liang; Lin, Ju-Li; Lin, Shuan-Pei; SHAU-PING LIN |
| 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
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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 |
| 臺大學術典藏 |
2018-09-10T07:23:46Z |
Identification of fibrillin-1 gene mutations in Marfan syndrome by high-resolution melting analysis
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Hung, C.-C. and Lin, S.-Y. and Lee, C.-N. and Cheng, H.-Y. and Lin, C.-Y. and Chang, C.-H. and Chiu, H.-H. and Yu, C.-C. and Lin, S.-P. and Cheng, W.-F. and Ho, H.-N. and Niu, D.-M. and Su, Y.-N.; 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; SHIN-YU LIN; HONG-NERNG HO; WEN-FANG CHENG; CHIH-CHIEH YU; CHIEN-NAN LEE; 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 |
| 國立成功大學 |
2016-06-27 |
Causes of death and clinical characteristics of 34 patients with Mucopolysaccharidosis II in Taiwan from 1995-2012
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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
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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 |
2016-01-30 |
Measuring propionyl-CoA carboxylase activity in phytohemagglutinin stimulated lymphocytes using high performance liquid chromatography
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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 |
Cardiac structure and function and effects of enzyme replacement therapy in patients with mucopolysaccharidoses I, II, IVA and VI
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Lin, Hsiang-Yu; Chuang, Chih-Kuang; Chen, Ming-Ren; Lin, Shan-Miao; Hung, Chung-Lieh; Chang, Chia-Ying; Chiu, Pao Chin; Tsai, Wen-Hui; Niu, Dau-Ming; Tsai, Fuu-Jen; Lin, Shio Jean; Hwu, Wuh-Liang; Lin, Ju-Li; Lin, Shuan-Pei; 胡務亮 |
| 國立臺灣大學 |
2016 |
Causes of death and clinical characteristics of 34 patients with Mucopolysaccharidosis II in Taiwan from 1995-2012
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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
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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
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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
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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)
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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 1-35 of 35 (1 Page(s) Totally)
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