| 臺大學術典藏 |
2020-02-12T04:05:57Z |
Newborn genetic screening for hearing impairment: A preliminary study at a tertiary center
|
Hsu C.-J.;Su Y.-N;CHIEN-NAN LEE;Tsao P.-N;Hsieh W.-S;Lin S.-Y;Hung C.-C;Wu C.-C; Wu C.-C; Hung C.-C; Lin S.-Y; Hsieh W.-S; Tsao P.-N; CHIEN-NAN LEE; Su Y.-N; Hsu C.-J. |
| 臺大學術典藏 |
2020-04-24T01:34:23Z |
Newborn genetic screening for hearing impairment: A preliminary study at a tertiary center
|
Chen-Chi Wu; Hung C.-C.; Lin S.-Y.; Hsieh W.-S.; Tsao P.-N.; Lee C.-N.; Su Y.-N.; Hsu C.-J. |
| 臺大學術典藏 |
2020-12-22T03:29:30Z |
Newborn genetic screening for hearing impairment: A preliminary study at a tertiary center
|
Wu C.-C.;Hung C.-C.;Lin S.-Y.;Hsieh W.-S.;Po-Nien Tsao;Lee C.-N.;Su Y.-N.;Hsu C.-J.; Wu C.-C.; Hung C.-C.; Lin S.-Y.; Hsieh W.-S.; PO-NIEN TSAO; Lee C.-N.; Su Y.-N.; Hsu C.-J. |
| 國立臺灣大學 |
2010 |
Newborn Screening
|
胡務亮; 簡穎秀; 李妮鍾; HWU, WUH-LIANG; CHIEN, YIN-HSIU; LEE, NI-CHUNG |
| 臺大學術典藏 |
2020-12-16T03:48:05Z |
Newborn Screening
|
N. C. Lee; Y. H. Chien; WUH-LIANG HWU; Wuh-Liang Hwu;Y. H. Chien;N. C. Lee |
| 國立臺灣大學 |
2013 |
Newborn screening for citrin deficiency and carnitine uptake defect using second-tier molecular tests
|
Wang, Li-Yun; Chen, Nien-I; Chen, Pin-Wen; Chiang, Shu-Chuan; Hwu, Wuh-Liang; Lee, Ni-Chung; Chien, Yin-Hsiu; 胡務亮; 李妮鍾; 簡穎秀; 蔣書娟 |
| 臺大學術典藏 |
2020-12-09T01:38:29Z |
Newborn screening for citrin deficiency and carnitine uptake defect using second-tier molecular tests
|
Wang L.-Y.; Chen N.-I.; Chen P.-W.; Chiang S.-C.; Hwu W.-L.; NI-CHUNG LEE; Chien Y.-H. |
| 臺大學術典藏 |
2020-12-16T02:25:31Z |
Newborn screening for citrin deficiency and carnitine uptake defect using second-tier molecular tests
|
Wang L.-Y.; Chen N.-I.; Chen P.-W.; Chiang S.-C.; WUH-LIANG HWU; Lee N.-C.; Chien Y.-H. |
| 臺大學術典藏 |
2020-12-24T06:16:45Z |
Newborn screening for citrin deficiency and carnitine uptake defect using second-tier molecular tests
|
Wang L.-Y.; Chen N.-I.; Chen P.-W.; Chiang S.-C.; Hwu W.-L.; Lee N.-C.; YIN-HSIU CHIEN |
| 國立臺灣大學 |
2010 |
Newborn Screening for Fabry Disease by Measuring Gla Activity Using Tandem Mass Spectrometry
|
簡穎秀; 胡務亮; CHIEN, YIN-HSIU; HWU, WUH-LIANG |
| 臺大學術典藏 |
2020-12-16T02:25:44Z |
Newborn screening for Fabry disease by measuring GLA activity using tandem mass spectrometry
|
Dajnoki A.;Fekete G.;Keutzer J.;Orsini J.J.;De Jesus V.R.;Chien Y.-H.;Wuh-Liang Hwu;Lukacs Z.;M?Hl A.;Zhang X.K.;Bodamer O.; Dajnoki A.; Fekete G.; Keutzer J.; Orsini J.J.; De Jesus V.R.; Chien Y.-H.; WUH-LIANG HWU; Lukacs Z.; M?hl A.; Zhang X.K.; Bodamer O. |
| 臺大學術典藏 |
2020-12-24T06:16:57Z |
Newborn screening for Fabry disease by measuring GLA activity using tandem mass spectrometry
|
YIN-HSIU CHIEN; De Jesus V.R.; Orsini J.J.; Keutzer J.; Dajnoki A.; Fekete G.; Hwu W.-L.; Lukacs Z.; M?hl A.; Zhang X.K.; Bodamer O. |
| 國立成功大學 |
2009-10 |
Newborn Screening for Fabry Disease in Taiwan Reveals a High Incidence of the Later-Onset GLA Mutation c.936+919G > A (IVS4+919G > A)
|
Hwu, Wuh-Liang; Chien, Yin-Hsiu; Lee, Ni-Chung; Chiang, Shu-Chuan; Dobrovolny, Robert; Huang, Ai-Chu; Yeh, Hui-Ying; Chao, May-Chin; Lin, Shio-Jean; Kitagawa, Teruo; Desnick, Robert J.; Hsu, Li-Wen |
| 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)
|
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 |
| 臺大學術典藏 |
2020-12-09T01:38:37Z |
Newborn screening for fabry disease in taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A)
|
Hwu W.-L.; Chien Y.-H.; NI-CHUNG LEE; Chiang S.-C.; Dobrovolny R.; Huang A.-C.; Yeh H.-Y.; Chao M.-C.; Lin S.-J.; Kitagawa T.; Desnick R.J.; Hsu L.-W. |
| 臺大學術典藏 |
2020-12-16T02:25:50Z |
Newborn screening for fabry disease in taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A)
|
Wuh-Liang Hwu;Chien Y.-H.;Lee N.-C.;Chiang S.-C.;Dobrovolny R.;Huang A.-C.;Yeh H.-Y.;Chao M.-C.;Lin S.-J.;Kitagawa T.;Desnick R.J.;Hsu L.-W.; WUH-LIANG HWU; Chien Y.-H.; Lee N.-C.; Chiang S.-C.; Dobrovolny R.; Huang A.-C.; Yeh H.-Y.; Chao M.-C.; Lin S.-J.; Kitagawa T.; Desnick R.J.; Hsu L.-W. |
| 臺大學術典藏 |
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)
|
Hwu W.-L.; YIN-HSIU CHIEN; Lee N.-C.; Chiang S.-C.; Dobrovolny R.; Huang A.-C.; Yeh H.-Y.; Chao M.-C.; Lin S.-J.; Kitagawa T.; Desnick R.J.; Hsu L.-W. |
| 國立交通大學 |
2014-12-08T15:24:03Z |
NEWBORN SCREENING FOR HOMOCYSTINURIA: MACHINE LEARNING VS CLINICIANS
|
Chen, W. H.; Chen, H. P.; Tseng, Y. J.; Hsu, K. P.; Hsieh, S. L.; Chien, Y. H.; Hwu, W. L.; Lai, F. |
| 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 |
| 臺大學術典藏 |
2020-12-09T01:38:35Z |
Newborn Screening for Methylmalonic Aciduria by Tandem Mass Spectrometry: 7 Years' Experience From Two Centers in Taiwan
|
Hung P.-Y.; Niu D.-M.; Cheng K.-H.;Liu M.-Y.;Kao C.-H.;Chen Y.-J.;Hsiao K.-J.;Liu T.-T.;Lin H.-Y.;Huang C.-H.;Chiang C.-C.;Ho H.-J.;Lin S.-P.;Ni-Chung Lee;Hwu W.-L.;Lin J.-L.;Hung P.-Y.;Niu D.-M.; Cheng K.-H.; Liu M.-Y.; Kao C.-H.; Chen Y.-J.; Hsiao K.-J.; Liu T.-T.; Lin H.-Y.; Huang C.-H.; Chiang C.-C.; Ho H.-J.; Lin S.-P.; NI-CHUNG LEE; Hwu W.-L.; Lin J.-L. |
| 臺大學術典藏 |
2020-12-16T02:25:45Z |
Newborn Screening for Methylmalonic Aciduria by Tandem Mass Spectrometry: 7 Years' Experience From Two Centers in Taiwan
|
Cheng K.-H.;Liu M.-Y.;Kao C.-H.;Chen Y.-J.;Hsiao K.-J.;Liu T.-T.;Lin H.-Y.;Huang C.-H.;Chiang C.-C.;Ho H.-J.;Lin S.-P.;Lee N.-C.;Wuh-Liang Hwu;Lin J.-L.;Hung P.-Y.;Niu D.-M.; Cheng K.-H.; Liu M.-Y.; Kao C.-H.; Chen Y.-J.; Hsiao K.-J.; Liu T.-T.; Lin H.-Y.; Huang C.-H.; Chiang C.-C.; Ho H.-J.; Lin S.-P.; Lee N.-C.; WUH-LIANG HWU; Lin J.-L.; Hung P.-Y.; Niu D.-M. |
| 臺大學術典藏 |
2020-12-09T01:38:06Z |
Newborn screening for Morquio disease and other lysosomal storage diseases: Results from the 8-plex assay for 70,000 newborns
|
Chien Y.-H.;Ni-Chung Lee;Chen P.-W.;Yeh H.-Y.;Gelb M.H.;Chiu P.-C.;Chu S.-Y.;Lee C.-H.;Lee A.-R.;Hwu W.-L.; Chien Y.-H.; NI-CHUNG LEE; Chen P.-W.; Yeh H.-Y.; Gelb M.H.; Chiu P.-C.; Chu S.-Y.; Lee C.-H.; Lee A.-R.; Hwu W.-L. |
| 臺大學術典藏 |
2020-12-16T02:25:00Z |
Newborn screening for Morquio disease and other lysosomal storage diseases: Results from the 8-plex assay for 70,000 newborns
|
Chien Y.-H.;Lee N.-C.;Chen P.-W.;Yeh H.-Y.;Gelb M.H.;Chiu P.-C.;Chu S.-Y.;Lee C.-H.;Lee A.-R.;Wuh-Liang Hwu; Chien Y.-H.; Lee N.-C.; Chen P.-W.; Yeh H.-Y.; Gelb M.H.; Chiu P.-C.; Chu S.-Y.; Lee C.-H.; Lee A.-R.; WUH-LIANG HWU |
| 臺大學術典藏 |
2020-12-24T06:16:15Z |
Newborn screening for Morquio disease and other lysosomal storage diseases: Results from the 8-plex assay for 70,000 newborns
|
YIN-HSIU CHIEN; Lee N.-C.; Chen P.-W.; Yeh H.-Y.; Gelb M.H.; Chiu P.-C.; Chu S.-Y.; Lee C.-H.; Lee A.-R.; Hwu W.-L. |
| 臺大學術典藏 |
2020-12-24T06:16:58Z |
Newborn screening for neuropathic lysosomal storage disorders
|
Lee N.-C.; YIN-HSIU CHIEN; Hwu W.-L. |
