臺灣學術機構典藏系統 (Taiwan Academic Institutional Repository, TAIR)

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Institution	Date	Title	Author
臺大學術典藏	2020-12-16T02:25:04Z	Heterogeneous nonataxic phenotypes of spinocerebellar ataxia in a Taiwanese population	Chen S.-J.;Lee N.-C.;Chien Y.-H.;Wuh-Liang Hwu;Lin C.-H.; Chen S.-J.; Lee N.-C.; Chien Y.-H.; WUH-LIANG HWU; Lin C.-H.
臺大學術典藏	2020-12-16T02:25:04Z	Fabry disease cardiac variant IVS4+919 G>A is associated with multiple cardiac gene variants in patients with severe cardiomyopathy and fatal arrhythmia	Juang J.-M.J.;Shun C.-T.;Chen Y.-S.;Wuh-Liang Hwu;Lee N.-C.;Tsai W.-H.;Chen N.-Q.;Chien Y.-H.; Juang J.-M.J.; Shun C.-T.; Chen Y.-S.; WUH-LIANG HWU; Lee N.-C.; Tsai W.-H.; Chen N.-Q.; Chien Y.-H.
臺大學術典藏	2020-12-16T02:25:03Z	Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese	Yu M.H.-C.;Tsang M.H.-Y.;Lai S.;Ho M.S.-P.;Tse D.M.L.;Willis B.;Kwong A.K.-Y.;Chou Y.-Y.;Lin S.-P.;Quinzii C.M.;Wuh-Liang Hwu;Chien Y.-H.;Kuo P.-L.;Chan V.C.-M.;Tsoi C.;Chong S.-C.;Rodenburg R.J.T.;Smeitink J.;Mak C.C.-Y.;Yeung K.-S.;Fung J.L.-F.;Lam W.;Hui J.;Lee N.-C.;Fung C.-W.;Chung B.H.-Y.; Yu M.H.-C.; Tsang M.H.-Y.; Lai S.; Ho M.S.-P.; Tse D.M.L.; Willis B.; Kwong A.K.-Y.; Chou Y.-Y.; Lin S.-P.; Quinzii C.M.; WUH-LIANG HWU; Chien Y.-H.; Kuo P.-L.; Chan V.C.-M.; Tsoi C.; Chong S.-C.; Rodenburg R.J.T.; Smeitink J.; Mak C.C.-Y.; Yeung K.-S.; Fung J.L.-F.; Lam W.; Hui J.; Lee N.-C.; Fung C.-W.; Chung B.H.-Y.
臺大學術典藏	2020-12-16T02:25:03Z	Clinical features of Pompe disease with motor neuronopathy	Tsai L.-K.;Wuh-Liang Hwu;Lee N.-C.;Huang P.-H.;Chien Y.-H.; Tsai L.-K.; WUH-LIANG HWU; Lee N.-C.; Huang P.-H.; Chien Y.-H.
臺大學術典藏	2020-12-16T02:25:03Z	Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study	Sansone V.A.; Ben-Omran T.; Topaloglu H.; Butterfield R.J.; De Vivo D.C.;Bertini E.;Swoboda K.J.;Wuh-Liang Hwu;Crawford T.O.;Finkel R.S.;Kirschner J.;Kuntz N.L.;Parsons J.A.;Ryan M.M.;Butterfield R.J.;Topaloglu H.;Ben-Omran T.;Sansone V.A.;Jong Y.-J.;Shu F.;Staropoli J.F.;Kerr D.;Sandrock A.W.;Stebbins C.;Petrillo M.;Braley G.;Johnson K.;Foster R.;Gheuens S.;Bhan I.;Reyna S.P.;Fradette S.;Farwell W.;Nurture Study Group; De Vivo D.C.; Bertini E.; Swoboda K.J.; WUH-LIANG HWU; Crawford T.O.; Finkel R.S.; Kirschner J.; Kuntz N.L.; Parsons J.A.; Ryan M.M.; Jong Y.-J.; Shu F.; Staropoli J.F.; Kerr D.; Sandrock A.W.; Stebbins C.; Petrillo M.; Braley G.; Johnson K.; Foster R.; Gheuens S.; Bhan I.; Reyna S.P.; Fradette S.; Farwell W.; NURTURE Study Group
臺大學術典藏	2020-12-16T02:25:02Z	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.;Chien Y.-H.;Wuh-Liang Hwu;Tsai W.-Y.; Liu M.-Y.; Lee C.-T.; Lee N.-C.; Tung Y.-C.; Chien Y.-H.; WUH-LIANG HWU; Tsai W.-Y.
臺大學術典藏	2020-12-16T02:25:02Z	Relationships among height, weight, body mass index, and age in taiwanese children with different types of mucopolysaccharidoses	Lin H.-Y.;Lee C.-L.;Chiu P.C.;Niu D.-M.;Tsai F.-J.;Wuh-Liang Hwu;Lin S.J.;Lin J.-L.;Chang T.-M.;Chuang C.-K.;Lin S.-P.; Lin H.-Y.; Lee C.-L.; Chiu P.C.; Niu D.-M.; Tsai F.-J.; WUH-LIANG HWU; Lin S.J.; Lin J.-L.; Chang T.-M.; Chuang C.-K.; Lin S.-P.
臺大學術典藏	2020-12-16T02:25:02Z	REM sleep and sleep apnea are associated with language function in Down syndrome children: An analysis of a community sample	Lee N.-C.;Hsu W.-C.;Chang L.-M.;Chen Y.-C.;Huang P.-T.;Chien C.-C.;Chien Y.-H.;Chen C.-L.;Wuh-Liang Hwu;Lee P.-L.; Lee N.-C.; Hsu W.-C.; Chang L.-M.; Chen Y.-C.; Huang P.-T.; Chien C.-C.; Chien Y.-H.; Chen C.-L.; WUH-LIANG HWU; Lee P.-L.
臺大學術典藏	2020-12-16T02:25:01Z	Cardiac manifestations and gene mutations of patients with RASopathies in Taiwan	Lee C.-L.;Tan L.T.H.-C.;Lin H.-Y.;Wuh-Liang Hwu;Lee N.-C.;Chien Y.-H.;Chuang C.-K.;Wu M.-H.;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.; Lee C.-L.; Tan L.T.H.-C.; Lin H.-Y.; WUH-LIANG HWU; Lee N.-C.; Chien Y.-H.; Chuang C.-K.; Wu M.-H.; 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	2020-12-16T02:25:01Z	Development of newborn screening for pompe disease	Wuh-Liang Hwu;Chien Y.-H.; WUH-LIANG HWU; Chien Y.-H.

Showing items 376-385 of 458 (46 Page(s) Totally)
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