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机构 日期 题名 作者
臺大學術典藏 2020-12-24T06:17:14Z KIF21A gene c.2860C>T mutation in congenital fibrosis of extraocular muscles type 1 and 3 Lin L.-K.; YIN-HSIU CHIEN; Wu J.-Y.; Wang A.-H.; Chiang S.-C.; Hwu W.-L.
臺大學術典藏 2020-12-24T06:17:14Z Phenylalanine hydroxylase deficiency: Intelligence of patients after early dietary treatment YIN-HSIU CHIEN; Chiang S.-C.; Huang A.; Lin J.-M.; Chiu Y.-N.; Chou S.-P.; Wang T.-R.; Hwu W.-L.
臺大學術典藏 2020-12-24T06:17:14Z Diffusion tensor images in children with early-treated, chronic, malignant phenylketonuric: Correlation with intelligence assessment Peng S.S.-F.; Tseng W.-Y.I.; YIN-HSIU CHIEN; Hwu W.-L.; Liu H.-M.
臺大學術典藏 2020-12-24T06:17:14Z Plasma chitotriosidase activity and malaria (multiple letters) Musumeci S.; Hwu W.-L.; YIN-HSIU CHIEN; Chen J.-H.
臺大學術典藏 2020-12-24T06:17:13Z Viral infections and prolonged fever after liver transplantation in young children with inborn errors of metabolism Huang H.-P.; YIN-HSIU CHIEN; Huang L.-M.; Ni Y.-H.; Chang M.-H.; Ho M.-C.; Lee P.-H.; Hwu W.-L.
臺大學術典藏 2020-12-24T06:17:13Z Wiskott-Aldrich syndrome complicated by an atypical lymphoproliferative disorder: A case report YIN-HSIU CHIEN; Liang D.-C.; Wu J.-Y.; Huang L.-H.; Ho T.-Y.; Shyur S.-D.; Ma Y.-C.
臺大學術典藏 2020-12-24T06:17:12Z Time course of acylcarnitine elevation in neonatal intrahepatic cholestasis caused by citrin deficiency Kobayashi K.; YIN-HSIU CHIEN; Lee N.-C.; Saheki T.; Chen H.-L.; Chiu P.-C.; Ni Y.-H.; Chang M.-H.; Hwu W.-L.
臺大學術典藏 2020-12-24T06:17:12Z Tandem mass neonatal screening in Taiwan - Report from one center Huang H.-P.; Chu K.-L.; YIN-HSIU CHIEN; Wei M.-L.; Wu S.-T.; Wang S.-F.; Hwu W.-L.
臺大學術典藏 2020-12-24T06:17:11Z Deconstructing pompe disease by analyzing single muscle fibers: To see a world in a grain of sand... Raben N.; Takikita S.; Pittis M.G.; Bembi B.; Marie S.K.N.; Roberts A.; Page L.; Kishnani P.S.; Schoser B.G.H.; YIN-HSIU CHIEN; Ralston E.; Nagaraju K.; Plotz P.H.
臺大學術典藏 2020-12-24T06:17:11Z Recombinant human acid α-glucosidase: Major clinical benefits in infantile-onset Pompe disease Wraith J.E.; Chen Y.T.; Worden M.A.; Davison M.; Kishnani P.S.; Corzo D.; Nicolino M.; Byrne B.; Mandel H.; Hwu W.L.; Leslie N.; Levine J.; Spencer C.; McDonald M.; Li J.; Dumontier J.; Halberthal M.; YIN-HSIU CHIEN; Hopkin R.; Vijayaraghavan S.; Gruskin D.; Bartholomew D.; Van Der Ploeg A.; Clancy J.P.; Parini R.; Morin G.; Beck M.; De La Gastine G.S.; Jokic M.; Thurberg B.; Richards S.; Bali D.

显示项目 71-80 / 345 (共35页)
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