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Showing items 271-280 of 458  (46 Page(s) Totally)
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Institution Date Title Author
臺大學術典藏 2020-12-16T02:25:36Z Human pompe disease-induced pluripotent stem cells for pathogenesis modeling, drug testing and disease marker identification Huang H.-P.; Chen P.-H.; WUH-LIANG HWU; Chuang C.-Y.; Chien Y.-H.; 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 2020-12-16T02:25:36Z Gene therapy for aromatic L-amino acid decarboxylase deficiency WUH-LIANG HWU; Muramatsu S.-I.; Tseng S.-H.; Tzen K.-Y.; Lee N.-C.; Chien Y.-H.; Snyder R.O.; Byrne B.J.; Tai C.-H.; Wu R.-M.
臺大學術典藏 2020-12-16T02:25:35Z An acidic oligopeptide displayed on AAV2 improves axial muscle tropism after systemic delivery Lee N.-C.; Falk D.J.; Byrne B.J.; Conlon T.J.; Clement N.; Porvasnik S.; Jorgensen M.L.; Potter M.; Erger K.E.; Watson R.; Ghivizzani S.C.; Chiu H.-C.; Chien Y.-H.; WUH-LIANG HWU
臺大學術典藏 2020-12-16T02:25:34Z A novel 3670-base pair mitochondrial DNA deletion resulting in multi-systemic manifestations in a child Liu H.-M.; Tsai L.-P.; Chien Y.-H.; Wu J.-F.; Weng W.-C.; Peng S.-F.; Wu E.-T.; Huang P.-H.; Lee W.-T.; Tsai I.-J.; WUH-LIANG HWU; Lee N.-C.
臺大學術典藏 2020-12-16T02:25:34Z Algorithm for Pompe disease newborn screening: Results from the Taiwan screening program Chiang S.-C.; WUH-LIANG HWU; Lee N.-C.; Hsu L.-W.; Chien Y.-H.
臺大學術典藏 2020-12-16T02:25:34Z Enhanced interpretation of newborn screening results without analyte cutoff values Dotsikas Y.; Downing M.; Bonham J.; Stembridge A.; Ludvigson D.; Vianey-Saban C.; Cheillan D.; Zori R.; Torres J.; Dy B.; Bodamer O.; Marquardt G.; Currier R.; McHugh D.M.S.; Gavrilov D.; Magera M.J.; Matern D.; Oglesbee D.; Raymond K.; Rinaldo P.; Smith E.H.; Tortorelli S.; Turgeon C.T.; Lorey F.; Wilcken B.; Wiley V.; Greed L.C.; Lewis B.; Boemer F.; Schoos R.; Marie S.; Vincent M.-F.; Sica Y.C.; Domingos M.T.; Al-Thihli K.; Sinclair G.; Al-Dirbashi O.Y.; Chakraborty P.; Dymerski M.; Porter C.; Manning A.; Seashore M.R.; Quesada J.; Reuben A.; Chrastina P.; Hornik P.; Atef Mandour I.; Atty Sharaf S.A.; Mei B.; Hoffman G.L.; 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.; Chien Y.-H.; WUH-LIANG HWU; Childs T.; McKeever C.D.; Tanyalcin T.; Abdulrahman M.; Queijo C.; Lemes A.; Davis T.; Hoffman W.; Loukas Y.L.; Papakonstantinou V.; Zacharioudakis G.S.A.; Bar?th K.; Karg E.; Franzson L.; Jonsson J.J.; Breen N.N.; Lesko B.G.; Berberich S.L.; Turner K.; Ruoppolo M.; Scolamiero E.; Antonozzi I.; Carducci C.; 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.; McCann M.; Campbell C.; Hopkins P.V.; De Sain-Van Der Velden M.G.; Elvers B.; Morrissey M.A.; Sunny S.; Knoll D.; Webster D.; Frazier D.M.; McClure J.D.
臺大學術典藏 2020-12-16T02:25:33Z Newborn screening for phenylketonuria: Machine learning vs clinicians Chen W.-H.;Chen H.-P.;Tseng Y.-J.;Hsu K.-P.;Hsieh S.-L.;Chien Y.-H.;Wuh-Liang Hwu;Lai F.; Chen W.-H.; Chen H.-P.; Tseng Y.-J.; Hsu K.-P.; Hsieh S.-L.; Chien Y.-H.; WUH-LIANG HWU; Lai F.
臺大學術典藏 2020-12-16T02:25:33Z Late onset of symptoms in an atypical patient with the cblJ inborn error of vitamin B12 metabolism: Diagnosis and novel mutation revealed by exome sequencing Kim J.C.; Lee N.-C.; WUH-LIANG HWU; Chien Y.-H.; Fahiminiya S.; Majewski J.; Watkins D.; Rosenblatt D.S.
臺大學術典藏 2020-12-16T02:25:33Z Current diagnosis and management of mucopolysaccharidosis VI in the Asia-Pacific region WUH-LIANG HWU; Okuyama T.; But W.M.; Estrada S.; Gu X.; Hui J.; Kosuga M.; Lin S.-P.; Ngu L.-H.; Shi H.; Tanaka A.; Thong M.-K.; Wattanasirichaigoon D.; Wasant P.; McGill J.
臺大學術典藏 2020-12-16T02:25:33Z Integrating human genome database into electronic health record with sequence alignment and compression mechanism Chen W.-H.; Lu Y.-W.; Lai F.; Chien Y.-H.; WUH-LIANG HWU

Showing items 271-280 of 458  (46 Page(s) Totally)
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