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显示项目 41-65 / 226 (共10页)
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机构 日期 题名 作者
臺大學術典藏 2021-06-10T07:01:45Z Clinical and molecular features of idiopathic hypogonadotropic hypogonadism in Taiwan: A single center experience Cho, Chih-Yi; Tsai, Wen-Yu; Lee, Cheng-Ting; Liu, Shih-Yao; Huang, Shu-Yuan; Chien, Yin-Hsiu; Hwu, Wuh-Liang; NI-CHUNG LEE; Tung, Yi-Ching
臺大學術典藏 2021-06-10T06:57:52Z Suboptimal trophectoderm mitochondrial DNA level is associated with delayed blastocyst development Wu, Frank Shao-Ying; Weng, Shao-Ping; Shen, Meng-Shun; Ma, Pei-Chun; Wu, Po-Kuan; NI-CHUNG LEE
臺大學術典藏 2021-05-26T03:52:07Z Vohwinkel syndrome associated with a p.Gly59Arg missense mutation in GJB2 Hsieh, Paul Chen; CHEN-CHI WU; NI-CHUNG LEE; JUNG-HSIEN HSIEH; YI-HUA LIAO
臺大學術典藏 2021-03-22T03:55:46Z Mitochondrial UQCRC1 mutations cause autosomal dominant parkinsonism with polyneuropathy Tsai, Pei I.; Lin, Han Yi; Hattori, Nobutaka; Funayama, Manabu; Jeon, Beomseok; Sato, Kota; Abe, Koji; Mukai, Yohei; Takahashi, Yuji; Li, Yuanzhe; Nishioka, Kenya; Yoshino, Hiroyo; Daida, Kensuke; Chen, Meng Ling; Cheng, Jay; Huang, Cheng Yen; Wu, Yen Sheng; Lai, Hsing Jung; Tsai, Hsin Hsi; Lo, Wen Chun; Hung, Yu Chien; Ke, Yi Ci; Farrer, Matthew; CHIN-HSIEN LIN; SHIOU-RU TZENG; RUOH-FANG YEN; NI-CHUNG LEE; CHIH-CHIANG CHAN; CHI-CHAO CHAO; SUNG-TSANG HSIEH; RUEY-MEEI WU
臺大學術典藏 2021-03-02T14:00:29Z Suboptimal trophectoderm mitochondrial DNA level is associated with delayed blastocyst development Wu, Frank Shao Ying; Weng, Shao Ping; Shen, Meng Shun; Ma, Pei Chun; Wu, Po Kuan; NI-CHUNG LEE
臺大學術典藏 2021-01-18T09:12:02Z Vohwinkel syndrome associated with a p.Gly59Arg missense mutation in GJB2 Hsieh, Paul Chen; CHEN-CHI WU; NI-CHUNG LEE; JUNG-HSIEN HSIEH; YI-HUA LIAO
臺大學術典藏 2020-12-10T01:24:26Z A case of GNE myopathy mimicking hereditary motor neuropathy Huang, Y-N;Chuang, H-J;Hsueh, H-W;Huang, H-C;Ni-Chung Lee;Chao, C-C;Huang, P-H;Lee, Y-C;Lin, K-P;Yang, C-C;Hsieh, S-T; Huang, Y-N; Chuang, H-J; Hsueh, H-W; Huang, H-C; NI-CHUNG LEE; Chao, C-C; Huang, P-H; Lee, Y-C; Lin, K-P; Yang, C-C; Hsieh, S-T
臺大學術典藏 2020-12-10T01:22:45Z Autosomal dominant cerebellar ataxia, deafness, and narcolepsy with amenorrhea, subclinical optic atrophy, and electroencephalographic abnormality: A case report Chang, Kai-Chieh;Kuo, Yih-Chih;Hsueh, Hsueh-Wen;Ni-Chung Lee;Yang, Chih-Chao;Hsieh, Sung-Tsang;Chao, Chi-Chao; Chang, Kai-Chieh; Kuo, Yih-Chih; Hsueh, Hsueh-Wen; NI-CHUNG LEE; Yang, Chih-Chao; Hsieh, Sung-Tsang; Chao, Chi-Chao
臺大學術典藏 2020-12-10T01:14:55Z Mitochondrial UQCRC1 mutations cause autosomal dominant parkinsonism with polyneuropathy Lin, Chin-Hsien;Tsai, Pei-I;Lin, Han-Yi;Hattori, Nobutaka;Funayama, Manabu;Jeon, Beomseok;Sato, Kota;Abe, Koji;Mukai, Yohei;Takahashi, Yuji;Li, Yuanzhe;Nishioka, Kenya;Yoshino, Hiroyo;Daida, Kensuke;Chen, Meng-Ling;Cheng, Jay;Huang, Cheng-Yen;Tzeng, Shiou-Ru;Wu, Yen-Sheng;Lai, Hsing-Jung;Tsai, Hsin-Hsi;Yen, Ruoh-Fang;Ni-Chung Lee;Lo, Wen-Chun;Hung, Yu-Chien;Chan, Chih-Chiang;Ke, Yi-Ci;Chao, Chi-Chao;Hsieh, Sung-Tsang;Farrer, Matthew;Wu, Ruey-Meei; Lin, Chin-Hsien; Tsai, Pei-I; Lin, Han-Yi; Hattori, Nobutaka; Funayama, Manabu; Jeon, Beomseok; Sato, Kota; Abe, Koji; Mukai, Yohei; Takahashi, Yuji; Li, Yuanzhe; Nishioka, Kenya; Yoshino, Hiroyo; Daida, Kensuke; Chen, Meng-Ling; Cheng, Jay; Huang, Cheng-Yen; Tzeng, Shiou-Ru; Wu, Yen-Sheng; Lai, Hsing-Jung; Tsai, Hsin-Hsi; Yen, Ruoh-Fang; NI-CHUNG LEE; Lo, Wen-Chun; Hung, Yu-Chien; Chan, Chih-Chiang; Ke, Yi-Ci; Chao, Chi-Chao; Hsieh, Sung-Tsang; Farrer, Matthew; Wu, Ruey-Meei
臺大學術典藏 2020-12-10T01:05:24Z Towards a reference genome that captures global genetic diversity Wong, Karen H. Y.; Ma, Walfred; Wei, Chun-Yu; Yeh, Erh-Chan; Lin, Wan-Jia; Wang, Elin H. F.; Su, Jen-Ping; Hsieh, Feng-Jen; Kao, Hsiao-Jung; Chen, Hsiao-Huei; Chow, Stephen K.; Young, Eleanor; Chu, Catherine; Poon, Annie; Yang, Chi-Fan; Lin, Dar-Shong; Hu, Yu-Feng; Wu, Jer-Yuarn; NI-CHUNG LEE; Hwu, Wuh-Liang; Boffelli, Dario; Martin, David; Xiao, Ming; Kwok, Pui-Yan
臺大學術典藏 2020-12-09T01:38:45Z Neonatal bacteremia in a neonatal intensive care unit: Analysis of causative organisms and antimicrobial susceptibility Ni-Chung Lee;Chen S.-J.;Tang R.-B.;Hwang B.-T.; NI-CHUNG LEE; Chen S.-J.; Tang R.-B.; Hwang B.-T.
臺大學術典藏 2020-12-09T01:38:45Z Retroperitoneal Arteriovenous Malformation Causing Congestive Heart Failure - One Case Report Ni-Chung Lee;Hwang B.;Tui C.-M.;Wei C.-F.;Lee P.-C.; NI-CHUNG LEE; Hwang B.; Tui C.-M.; Wei C.-F.; Lee P.-C.
臺大學術典藏 2020-12-09T01:38:45Z Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome: Report of One Case Ni-Chung Lee;Tiu C.-M.;Soong W.-J.;Tsen C.-L.;Hwang B.-T.;Wei C.-F.; NI-CHUNG LEE; Tiu C.-M.; Soong W.-J.; Tsen C.-L.; Hwang B.-T.; Wei C.-F.
臺大學術典藏 2020-12-09T01:38:44Z Corneal lesion as the initial manifestation of tyrosinemia type II Tsai C.-P.;Lin P.-Y.;Ni-Chung Lee;Niu D.-M.;Lee S.-M.;Hsu W.-M.; Tsai C.-P.; Lin P.-Y.; NI-CHUNG LEE; Niu D.-M.; Lee S.-M.; Hsu W.-M.
臺大學術典藏 2020-12-09T01:38:44Z Long-term follow-up of Chinese patients who received delayed treatment for 6-pyruvoyl-tetrahydropterin synthase deficiency Hsiao K.-J.; Chiu P.-C.; Niu D.-M.; Liu T.-T.; NI-CHUNG LEE; Cheng L.-Y.; Ni-Chung Lee;Cheng L.-Y.;Liu T.-T.;Hsiao K.-J.;Chiu P.-C.;Niu D.-M.
臺大學術典藏 2020-12-09T01:38:44Z Intrafamilial phenotype variation in Marfan syndrome ascertained by intragenic linkage analysis. Ni-Chung Lee;Hwang B.;Chen C.H.;Niu D.M.; NI-CHUNG LEE; Hwang B.; Chen C.H.; Niu D.M.
臺大學術典藏 2020-12-09T01:38:44Z Contributions of bone maturation measurements to the differential diagnosis of neonatal transient hypothyroidism versus dyshormonogenetic congenital hypothyroidism Niu D.M.;Hwang B.;Tiu C.M.;Tsai L.P.;Yen J.L.;Ni-Chung Lee;Lin C.-Y.; Niu D.M.; Hwang B.; Tiu C.M.; Tsai L.P.; Yen J.L.; NI-CHUNG LEE; Lin C.-Y.
臺大學術典藏 2020-12-09T01:38:43Z Brain development in infantile-onset pompe disease treated by enzyme replacement therapy Chien Y.-H.;Ni-Chung Lee;Peng S.-F.;Hwu W.-L.; Chien Y.-H.; NI-CHUNG LEE; Peng S.-F.; Hwu W.-L.
臺大學術典藏 2020-12-09T01:38:43Z Time course of acylcarnitine elevation in neonatal intrahepatic cholestasis caused by citrin deficiency Ni-Chung Lee;Chien Y.-H.;Kobayashi K.;Saheki T.;Chen H.-L.;Chiu P.-C.;Ni Y.-H.;Chang M.-H.;Hwu W.-L.; NI-CHUNG LEE; Chien Y.-H.; Kobayashi K.; Saheki T.; Chen H.-L.; Chiu P.-C.; Ni Y.-H.; Chang M.-H.; Hwu W.-L.
臺大學術典藏 2020-12-09T01:38:43Z α-Galactosidase activity should be examined in patients with proteinuria: What have we learned from a family affected with Fabry disease? [5] Ni-Chung Lee;Niu D.-M.;Lin C.-Y.;Hsiao K.-J.;Yang A.-H.;Ng Y.-Y.; NI-CHUNG LEE; Niu D.-M.; Lin C.-Y.; Hsiao K.-J.; Yang A.-H.; Ng Y.-Y.
臺大學術典藏 2020-12-09T01:38:42Z Changes in incidence and sex ratio of glucose-6-phosphate dehydrogenase deficiency by population drift in Taiwan Chien Y.-H.;Ni-Chung Lee;Wu S.-T.;Liou J.-J.;Chen H.-C.;Hwu W.-L.; Chien Y.-H.; NI-CHUNG LEE; Wu S.-T.; Liou J.-J.; Chen H.-C.; Hwu W.-L.
臺大學術典藏 2020-12-09T01:38:42Z Deficiency of the carnitine transporter (OCTN2) with partial N-acetylglutamate synthase (NAGS) deficiency. Hwu W.L.;Chien Y.H.;Tang N.L.;Law L.K.;Lin C.Y.;Ni-Chung Lee; Hwu W.L.; Chien Y.H.; Tang N.L.; Law L.K.; Lin C.Y.; NI-CHUNG LEE
臺大學術典藏 2020-12-09T01:38:42Z Treatment of Niemann-Pick disease type C in two children with miglustat: initial responses and maintenance of effects over 1 year. Chien Y.H.;Ni-Chung Lee;Tsai L.K.;Huang A.C.;Peng S.F.;Chen S.J.;Hwu W.L.; Chien Y.H.; NI-CHUNG LEE; Tsai L.K.; Huang A.C.; Peng S.F.; Chen S.J.; Hwu W.L.
臺大學術典藏 2020-12-09T01:38:41Z Early detection of pompe disease by newborn screening is feasible: Results from the Taiwan screening program Chien Y.-H.;Chiang S.-C.;Zhang X.K.;Keutzer J.;Ni-Chung Lee;Huang A.-C.;Chen C.-A.;Wu M.-H.;Huang P.-H.;Tsai F.-J.;Chen Y.-T.;Hwu W.-L.; Chien Y.-H.; Chiang S.-C.; Zhang X.K.; Keutzer J.; NI-CHUNG LEE; Huang A.-C.; Chen C.-A.; Wu M.-H.; Huang P.-H.; Tsai F.-J.; Chen Y.-T.; Hwu W.-L.
臺大學術典藏 2020-12-09T01:38:41Z Long-term follow-up of Taiwanese Chinese patients treated early for 6-pyruvoyl-tetrahydropterin synthase deficiency Liu K.-M.;Liu T.-T.;Ni-Chung Lee;Cheng L.-Y.;Hsiao K.-J.;Niu D.-M.; Liu K.-M.; Liu T.-T.; NI-CHUNG LEE; Cheng L.-Y.; Hsiao K.-J.; Niu D.-M.

显示项目 41-65 / 226 (共10页)
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