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機構 日期 題名 作者
臺大學術典藏 2020-02-03T08:15:24Z Molecular genetic study of Pompe disease in Chinese patients in Taiwan Ko T.-M.; Hwu W.-L.; Lin Y.-W.; Tseng L.-H.; HSIAO-LIN HWA; Wang T.-R.; Chuang S.-M.; Ko T.-M.;Hwu W.-L.;Lin Y.-W.;Tseng L.-H.;Hsiao-Lin Hwa;Wang T.-R.;Chuang S.-M.
臺大學術典藏 2020-02-03T08:15:05Z Analysis of nondegraded and degraded DNA mixtures of close relatives using massively parallel sequencing Li S.-F.; Hwu W.-L.; Su C.-W.; Hsiao-Lin Hwa;Wu M.-Y.;Lee J.C.-I.;Yin H.-I.;Hsu P.-M.;Li S.-F.;Hwu W.-L.;Su C.-W.; HSIAO-LIN HWA; Wu M.-Y.; Lee J.C.-I.; Yin H.-I.; Hsu P.-M.
臺大學術典藏 2020 Analysis of nondegraded and degraded DNA mixtures of close relatives using massively parallel sequencing Li S.-F.; Hwu W.-L.; Su C.-W.; Hsu P.-M.; Yin H.-I.; JAMES CHUN-I LEE; Wu M.-Y.; Hwa H.-L.; Hwa H.-L.;Wu M.-Y.;James Chun-I Lee;Yin H.-I.;Hsu P.-M.;Li S.-F.;Hwu W.-L.;Su C.-W.
臺大學術典藏 2020 Clinical, radiological, and genetic characteristics in patients with Huntington's disease in a Taiwanese cohort CHIN-HSIEN LIN; Hwu W.-L.; Chien Y.-H.; Lee N.-C.; Lee B.-C.; Chen S.-J.; Chen S.-J.;Lee B.-C.;Lee N.-C.;Chien Y.-H.;Hwu W.-L.;Chin-Hsien Lin
臺大學術典藏 2020 Complications of erythropoietin in navigated brain gene therapy: A case report Tseng S.-H.;Chun-Hwei Tai;Hwu W.-L.; Tseng S.-H.; CHUN-HWEI TAI; Hwu W.-L.
臺大學術典藏 2020 The timely needs for infantile onset pompe disease newborn screening—practice in Taiwan Chiang S.-C.; YIN-HSIU CHIEN; Chang K.-L.; Lee N.-C.; Hwu W.-L.
臺大學術典藏 2020 Thyroid disorders in Taiwanese children with Down syndrome: The experience of a single medical center Liu M.-Y.; Lee C.-T.; Lee N.-C.; Tung Y.-C.; YIN-HSIU CHIEN; Hwu W.-L.; Tsai W.-Y.
臺大學術典藏 2020 CMAP changes upon symptom onset and during treatment in spinal muscular atrophy patients: lessons learned from newborn screening YIN-HSIU CHIEN; Lee N.-C.; Lee W.-T.; Weng W.-C.; Hsu Y.-K.; Chang F.-M.; Lin C.-Y.; Hwu W.-L.
臺大學術典藏 2020 Cardiac manifestations and gene mutations of patients with RASopathies in Taiwan Chuang C.-K.; Chien Y.-H.; Lee N.-C.; Hwu W.-L.; Lin H.-Y.; Tan L.T.H.-C.; Lee C.-L.; Lee C.-L.;Tan L.T.H.-C.;Lin H.-Y.;Hwu W.-L.;Lee N.-C.;Chien Y.-H.;Chuang C.-K.;Mei-Hwan Wu;Wang J.-K.;Chu S.-Y.;Lin J.-L.;Lo F.-S.;Su P.-H.;Hsu C.-C.;Ko Y.-Y.;Chen M.-R.;Chiu H.-C.;Lin S.-P.; MEI-HWAN WU; Wang J.-K.; Chu S.-Y.; Lin J.-L.; Lo F.-S.; Su P.-H.; Hsu C.-C.; Ko Y.-Y.; Chen M.-R.; Chiu H.-C.; Lin S.-P.
臺大學術典藏 2020 Thyroid disorders in Taiwanese children with Down syndrome: The experience of a single medical center Lee C.-T.; Liu M.-Y.; Liu M.-Y.;Lee C.-T.;Lee N.-C.;Yi-Ching Tung;Chien Y.-H.;Hwu W.-L.;Tsai W.-Y.; Lee N.-C.; YI-CHING TUNG; Chien Y.-H.; Hwu W.-L.; Tsai W.-Y.

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