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Showing items 226-235 of 770  (77 Page(s) Totally)
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Institution Date Title Author
臺大學術典藏 2020-12-24T06:16:52Z Human Pompe disease-induced pluripotent stem cells for pathogenesis modeling, drug testing and disease marker identification Huang H.-P.; Chen P.-H.; Hwu W.-L.; Chuang C.-Y.; YIN-HSIU CHIEN; Stone L.; Chien C.-L.; Li L.-T.; Chiang S.-C.; Chen H.-F.; Ho H.-N.; Chen C.-H.; Kuo H.-C.
臺大學術典藏 2020-12-24T06:16:51Z Gene therapy for aromatic L-amino acid decarboxylase deficiency Wu R.-M.; Tai C.-H.; Byrne B.J.; YIN-HSIU CHIEN; Snyder R.O.; Lee N.-C.; Tzen K.-Y.; Tseng S.-H.; Muramatsu S.-I.; Hwu W.-L.
臺大學術典藏 2020-12-24T06:16:51Z Association of the congenital neuromuscular form of glycogen storage disease type IV with a large deletion and recurrent frameshift mutation Lee N.-C.; Chen Y.-T.; Tsao P.-N.; Hsieh W.-S.; Chen C.-Y.; Chou H.-C.; Li S.-C.; Hwu W.-L.; Lin J.-L.; Bali D.S.; Yang C.; Chu S.-M.; YIN-HSIU CHIEN
臺大學術典藏 2020-12-24T06:16:51Z Early pathologic changes and responses to treatment in patients with later-onset Pompe disease Hwu W.-L.; Thurberg B.L.; Huang P.-H.; Lee W.-T.; Lee N.-C.; YIN-HSIU CHIEN
臺大學術典藏 2020-12-24T06:16:51Z Multimodel assessment of BRCA1 mutations in Taiwanese (ethnic Chinese) women with early-onset, bilateral or familial breast cancer Chang K.-J.; Hwu W.-L.; Hsieh F.-J.; Cheng A.-L.; Lin C.-H.; Sargeant A.M.; Bai L.-Y.; Lu Y.-S.; Liu T.-P.; YIN-HSIU CHIEN; Kuo W.-H.; Lin P.-H.; Huang A.-C.
臺大學術典藏 2020-12-24T06:16:50Z An acidic oligopeptide displayed on AAV2 improves axial muscle tropism after systemic delivery Ghivizzani S.C.; Watson R.; Erger K.E.; Jorgensen M.L.; Potter M.; Clement N.; Porvasnik S.; Conlon T.J.; Lee N.-C.; Falk D.J.; Byrne B.J.; Chiu H.-C.; YIN-HSIU CHIEN; Hwu W.-L.
臺大學術典藏 2020-12-24T06:16:49Z Algorithm for Pompe disease newborn screening: Results from the Taiwan screening program Chiang S.-C.; Hwu W.-L.; Lee N.-C.; Hsu L.-W.; YIN-HSIU CHIEN
臺大學術典藏 2020-12-24T06:16:49Z Enhanced interpretation of newborn screening results without analyte cutoff values Porter C.; Dymerski M.; Chakraborty P.; Al-Dirbashi O.Y.; Al-Thihli K.; Sinclair G.; Domingos M.T.; Sica Y.C.; Vincent M.-F.; Marie S.; Schoos R.; Boemer F.; Lewis B.; Greed L.C.; Wiley V.; Wilcken B.; Lorey F.; Turgeon C.T.; Tortorelli S.; Marquardt G.; Currier R.; McHugh D.M.S.; Gavrilov D.; Magera M.J.; Matern D.; Oglesbee D.; Raymond K.; Rinaldo P.; Smith E.H.; Carducci C.; Antonozzi I.; Scolamiero E.; Turner K.; Ruoppolo M.; Berberich S.L.; Lesko B.G.; Breen N.N.; Jonsson J.J.; Franzson L.; Karg E.; Bar?th K.; Zacharioudakis G.S.A.; Papakonstantinou V.; Loukas Y.L.; Manning A.; Seashore M.R.; Quesada J.; Reuben A.; Chrastina P.; Hornik P.; Atef Mandour I.; Atty Sharaf S.A.; Bodamer O.; Dy B.; Torres J.; Zori R.; Cheillan D.; Vianey-Saban C.; Ludvigson D.; Stembridge A.; Bonham J.; Downing M.; Dotsikas Y.; Webster D.; Knoll D.; Sunny S.; Elvers B.; Morrissey M.A.; De Sain-Van Der Velden M.G.; Hopkins P.V.; Campbell C.; McCann M.; Caruso U.; Cassanello M.; La Marca G.; Pasquini E.; Di Gangi I.M.; Giordano G.; Camilot M.; Teofoli F.; Manos S.M.; Peterson C.K.; Mayfield Gibson S.K.; Sevier D.W.; Lee S.-Y.; Park H.-D.; Khneisser I.; Browning P.; Gulamali-Majid F.; Watson M.S.; Eaton R.B.; Sahai I.; Ruiz C.; Torres R.; Seeterlin M.A.; Stanley E.L.; Hietala A.; Hoffman G.L.; Mei B.; Hoffman W.; Davis T.; Lemes A.; Queijo C.; Abdulrahman M.; Tanyalcin T.; McKeever C.D.; Childs T.; Hwu W.-L.; Frazier D.M.; McClure J.D.; Sesser D.E.; Willis S.A.; Rocha H.; Vilarinho L.; John C.; Lim J.; Caldwell S.G.; Tomashitis K.; Cast?eiras Ramos D.E.; Cocho De Juan J.A.; Rueda Fern?ndez I.; Yahyaoui Mac?as R.; Egea-Mellado J.M.; Gonz?lez-Gallego I.; Delgado Pecellin C.; Garc?a-Valdecasas Bermejo M.S.; YIN-HSIU CHIEN
臺大學術典藏 2020-12-24T06:16:47Z Web-based newborn screening system for metabolic diseases: Machine learning versus clinicians Chen H.-P.; Hsu K.-P.; Hsieh S.-L.; Chen W.-H.; Su X.-Y.; Tseng Y.-J.; YIN-HSIU CHIEN; Hwu W.-L.; Lai F.
臺大學術典藏 2020-12-24T06:16:46Z Fatty acid oxidation disorders in a chinese population in Taiwan Ho H.-C.; Chien C.-C.; Chen L.-H.; Chao M.-C.; Chen L.-C.; Lee N.-C.; YIN-HSIU CHIEN; Suen J.-H.; Hwu W.-L.

Showing items 226-235 of 770  (77 Page(s) Totally)
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