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Taiwan Academic Institutional Repository >
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"簡穎秀"
Showing items 86-95 of 162 (17 Page(s) Totally)
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| 國立臺灣大學 |
2009 |
Newborn Screening for Fabry Disease in Taiwan Reveals a High Incidence of the Later-Onset Gla Mutation C.936+919g > a (Ivs4+919g > a)
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胡務亮; 簡穎秀; 李妮鍾; 蔣書娟; 黃愛珠; 葉慧, 英; 趙美琴; 林秀娟; 徐儷文; HWU, WUH-LIANG; CHIEN, YIN-HSIU; LEE, NI- CHUNG; CHIANG, SHU-CHUAN; HUANG, AI-CHU; YEH, HUI-YING; CHAO, MEI-CHYN; LIN, SHIO-JEAN; HSU, LI-WEN |
| 國立臺灣大學 |
2009 |
Caloric Restriction in Alstrom Syndrome Prevents Hyperinsulinemia
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李妮鍾; 簡穎秀; 蔡文友; 胡務亮; LEE, NI-CHUNG; CHIEN, YIN-HSIU; TSAI, WEN-YU; HWU, WUH-LIANG |
| 國立臺灣大學 |
2009 |
Eye Anomalies and Neurological Manifestations in Patients with Pax6 Mutations
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簡穎瑄; 黃祥博; 胡務亮; 簡穎秀; 曾慶昌; 李妮鍾; CHIEN, YIN-HSUAN; HUANG, HSIANG-PO; HWU, WUH-LIANG; CHIEN, YIN-HSIU; TSENG, CHING-CHANG; LEE, NI-CHUNG |
| 國立臺灣大學 |
2009 |
Glycogen Storage Disease Type Ib: The First Case in Taiwan
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蕭惠如; 張修豪; 胡務亮; 林青雲; 李妮鍾; 簡穎秀; HSIAO, HUI-JU; CHANG, HSIU-HAO; HWU, WUH-LIANG; LAM, CHING-WAN; LEE, NI-CHUNG; CHIEN, YIN-HSIU |
| 國立臺灣大學 |
2009 |
Pseudogene-Derived Ikbkg Gene Mutations in Incontinentia Pigmenti
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李妮鍾; 胡務亮; 簡穎秀; 柯滄銘; LEE, NI-CHUNG; HWU, WUH-LIANG; CHIEN, YIN-HSIU; KO, TSANG-MING |
| 國立臺灣大學 |
2009 |
Reversal of Cardiac Dysfunction after Enzyme Replacement in Patients with Infantile-Onset Pompe Disease
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陳蕾如; 陳俊安; 邱舜南; 簡穎秀; 李妮鍾; 林銘泰; 胡務亮; 王主科; 吳美環; CHEN, LEI-RU; CHEN, CHUN-AN; CHIU, SHUENN-NAN; CHIEN, YIN-HSIU; LEE, NI-CHUNG; LIN, MING-TAI; HWU, WUH-LIANG; WANG, JOU-KOU; WU, MEI-HWAN |
| 國立臺灣大學 |
2009 |
Schizencephaly in Leopard Syndrome
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梁昭鉉; 簡穎秀; 胡務亮; 葉樹人; 彭信逢; LIANG, JAO-SHWANN; CHIEN, YIN-HSIU; HWU, WUH-LIANG; YEH, SHU-JEN; PENG, STEVEN SHINN-FORNG; HWU, WUH- LIANG |
| 國立臺灣大學 |
2009 |
X-Linked Liver Glycogenosis in a Taiwanese Family: Transmission from Undiagnosed Males
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陳思達; 陳慧玲; 倪衍玄; 簡穎秀; 鄭永銘; 張美惠; 胡務亮; CHEN, SZU-TAH; CHEN, HUEY-LING; NI, YEN-HSUAN; CHIEN, YIN-HSIU; JENG, YUNG-MING; CHANG, MEI-HWEI; HWU, WUH-LIANG |
| 國立臺灣大學 |
2009 |
Brain Myelination Defects in Infantile Onset Pompe Disease
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簡穎秀; 彭信逢; 曾文毅; 胡務亮; CHIEN, YIN-HSIU; PENG, STEVEN SHINN-FORNG; TSENG, WEN-YIH; HWU, WUH-LIANG |
| 國立臺灣大學 |
2009 |
Cystathionine Gamma-Lyase: Clinical, Metabolic, Genetic, and Structural Studies
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簡穎秀; 胡務亮; CHIEN, YIN-HSIU; HWU, WUH-LIANG |
Showing items 86-95 of 162 (17 Page(s) Totally)
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