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机构 日期 题名 作者
臺大學術典藏 2020-12-24T06:17:18Z Gene symbol: WAS. Disease: Wiskott-Aldrich syndrome. YIN-HSIU CHIEN; Hwu W.L.; Ariga T.
臺大學術典藏 2020-12-24T06:17:17Z Partial trisomy 1 with congenital hydrocephalus and hypogammaglobulinemia: Report of one case Hwu W.-L.; Kuo P.-L.; Hung Y.-T.; YIN-HSIU CHIEN; Chu S.-Y.
臺大學術典藏 2020-12-24T06:17:17Z A step-wise diagnosis of fragile X syndrome in Taiwan Hwu W.-L.; YIN-HSIU CHIEN; Liu C.-H.; Tzeng C.-C.; Chiang S.-C.; Huang Y.-T.
臺大學術典藏 2020-12-24T06:17:16Z Carbohydrate deficient glycoprotein syndrome type IA Chu K.-L.; YIN-HSIU CHIEN; Tsai C.-E.; Freeze H.H.; Eklund E.; Hwu W.-L.
臺大學術典藏 2020-12-24T06:17:15Z Rapid detection of FGFR3 gene mutation in achondroplasia by DHPLC system-coupling heteroduplex and fluorescence-enhanced primer-extension analysis Chen C.-A.; YIN-HSIU CHIEN; Hung C.-C.; Chien S.-C.; Lee C.-N.; Su Y.-N.
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.

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