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Showing items 31-55 of 770  (31 Page(s) Totally)
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Institution Date Title Author
臺大學術典藏 2022-02-14T07:10:50Z Rapid Trio Exome Sequencing for Autosomal Recessive Renal Tubular Dysgenesis in Recurrent Oligohydramnios Lin S.-Y.; Chuang G.-T.; Hung C.-H.; Lin W.-C.; YUNG-MING JENG; Yen T.-A.; Chang K.; Chien Y.-H.; Hwu W.-L.; Lee C.-N.; Tsai I.-J.; Lee N.-C.
臺大學術典藏 2022-01-25T03:25:02Z 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.; CHI-LING CHEN; Hwu W.-L.; Lee P.-L.
臺大學術典藏 2021-12-16T06:28:32Z MRI in a case of adult-onset citrullinemia YA-FANG CHEN; Huang, Y C; Liu, H M; Hwu, W L
臺大學術典藏 2021-11-26T05:56:53Z Adenoviral interneuronal transportation after retrograde gene transfer in mice LI-KAI TSAI; Tsai M.-S.; Shyue S.-K.; Hwu W.-L.; Li H.
臺大學術典藏 2021-11-26T05:56:53Z Establishing a standardized therapeutic testing protocol for spinal muscular atrophy LI-KAI TSAI; Tsai M.-S.; Lin T.-B.; Hwu W.-L.; Li H.
臺大學術典藏 2021-11-26T05:56:52Z Valproic acid treatment in six patients with spinal muscular atrophy [5] LI-KAI TSAI; Yang C.-C.; Hwu W.-L.; Li H.
臺大學術典藏 2021-11-26T05:56:52Z Treatment of Niemann-Pick disease type C in two children with miglustat: initial responses and maintenance of effects over 1 year. Chien Y.H.; Lee N.C.; LI-KAI TSAI; Huang A.C.; Peng S.F.; Chen S.J.; Hwu W.L.
臺大學術典藏 2021-11-26T05:56:51Z Correlation of Survival Motor Neuron Expression in Leukocytes and Spinal Cord in Spinal Muscular Atrophy LI-KAI TSAI; Yang C.-C.; Ting C.-H.; Su Y.-N.; Hwu W.-L.; Li H.
臺大學術典藏 2021-11-26T05:56:51Z Myopathy in Gaucher disease LI-KAI TSAI; Chien Y.-H.; Yang C.-C.; Hwu W.-L.
臺大學術典藏 2021-11-26T05:56:48Z IGF-1 delivery to CNS attenuates motor neuron cell death but does not improve motor function in type III SMA mice LI-KAI TSAI; Chen Y.-C.; Cheng W.-C.; Ting C.-H.; Dodge J.C.; Hwu W.-L.; Cheng S.H.; Passini M.A.
臺大學術典藏 2021-11-26T05:56:47Z Long-term efficacy of miglustat in paediatric patients with Niemann-Pick disease type C Chien Y.H.; Peng S.F.; Yang C.C.; Lee N.C.; LI-KAI TSAI; Huang A.C.; Su S.C.; Tseng C.C.; Hwu W.L.
臺大學術典藏 2021-11-26T05:56:44Z Systemic administration of a recombinant AAV1 vector encoding IGF-1 improves disease manifestations in SMA mice LI-KAI TSAI; Chen C.-L.; Ting C.-H.; Lin-Chao S.; Hwu W.-L.; Dodge J.C.; Passini M.A.; Cheng S.H.
臺大學術典藏 2021-11-26T05:56:40Z Hypothermia improves disease manifestations in SMA mice via SMN augmentation LI-KAI TSAI; Chen C.-L.; Tsai Y.-C.; Ting C.-H.; Chien Y.-H.; Lee N.-C.; Hwu W.-L.
臺大學術典藏 2021-11-26T05:56:32Z A Neuron-Specific Gene Therapy Relieves Motor Deficits in Pompe Disease Mice Lee N.-C.; Hwu W.-L.; Muramatsu S.-I.; Falk D.J.; Byrne B.J.; Cheng C.-H.; Shih N.-C.; Chang K.-L.; LI-KAI TSAI; Chien Y.-H.
臺大學術典藏 2021-11-26T05:56:29Z Electrical abnormalities in dopaminergic neurons of the substantia nigra in mice with an aromatic L-amino acid decarboxylase deficiency Ho S.-Y.; Chien Y.-H.; LI-KAI TSAI; Muramatsu S.-I.; Hwu W.-L.; Liou H.-H.; Lee N.-C.
臺大學術典藏 2021-11-26T05:56:27Z Clinical features of Pompe disease with motor neuronopathy LI-KAI TSAI; Hwu W.-L.; Lee N.-C.; Huang P.-H.; Chien Y.-H.
臺大學術典藏 2021-11-26T05:56:19Z Ultrastructural and diffusion tensor imaging studies reveal axon abnormalities in Pompe disease mice Lee N.-C.; Peng W.-H.; LI-KAI TSAI; Lu Y.-H.; Wang H.-C.; Shih Y.-C.; Pung Z.-X.; Hu H.-Y.; Hwu W.-L.; Tseng W.-Y.I.; Chien Y.-H.
臺大學術典藏 2021-10-06T08:04:49Z Critical Trio Exome Benefits In-Time Decision-Making for Pediatric Patients with Severe Illnesses? Wu E.-T.; Hwu W.-L.; Chien Y.-H.; Hsu C.; Chen T.-F.; Chen N.-Q.; Chou H.-C.; Tsao P.-N.; Fan P.-C.; I-JUNG TSAI; Lin S.-P.; Hsieh W.-S.; Chang T.-M.; Chen C.-N.; Lee C.-H.; Chou Y.-Y.; Chiu P.-C.; Tsai W.-H.; Hsiung H.-C.; Lai F.; Lee N.-C.
臺大學術典藏 2021-10-06T08:04:48Z Rapid Trio Exome Sequencing for Autosomal Recessive Renal Tubular Dysgenesis in Recurrent Oligohydramnios Lin S.-Y.; Chuang G.-T.; Hung C.-H.; Lin W.-C.; Jeng Y.-M.; Yen T.-A.; Chang K.; Chien Y.-H.; Hwu W.-L.; Lee C.-N.; I-JUNG TSAI; Lee N.-C.
臺大學術典藏 2021-10-04T05:53:44Z Critical Trio Exome Benefits In-Time Decision-Making for Pediatric Patients with Severe Illnesses? Wu E.-T.; Hwu W.-L.; Chien Y.-H.; Hsu C.; Chen T.-F.; Chen N.-Q.; Chou H.-C.; Tsao P.-N.; PI-CHUAN FAN; Tsai I.-J.; Lin S.-P.; Hsieh W.-S.; Chang T.-M.; Chen C.-N.; Lee C.-H.; Chou Y.-Y.; Chiu P.-C.; Tsai W.-H.; Hsiung H.-C.; Lai F.; Lee N.-C.
臺大學術典藏 2021-09-17T05:40:57Z Mitral annuloplasty in an infant with Barth syndrome and severe mitral insufficiency: First case report and determination of annular diameter Huang S.-C.; Wu E.-T.; SHUENN-NAN CHIU; Hwu W.-L.; Wu M.-H.; Wang S.-S.
臺大學術典藏 2021-09-17T05:40:57Z Torsade de pointes ventricular tachycardia during elective intubation in a patient with Pompe disease Huang P.-K.; Wang C.-C.; SHUENN-NAN CHIU; Wu E.-T.; Chien Y.-H.; Hwu W.-L.; Wang J.-K.; Wu M.-H.
臺大學術典藏 2021-09-17T05:40:55Z Reversal of Cardiac Dysfunction after Enzyme Replacement in Patients with Infantile-Onset Pompe Disease Chen L.-R.; Chen C.-A.; SHUENN-NAN CHIU; Chien Y.-H.; Lee N.-C.; Lin M.-T.; Hwu W.-L.; Wang J.-K.; Wu M.-H.
臺大學術典藏 2021-09-17T05:40:49Z Left ventricular geometry, global function, and dyssynchrony in infants and children with pompe cardiomyopathy undergoing enzyme replacement therapy Chen C.-A.; Chien Y.-H.; Hwu W.-L.; Lee N.-C.; Wang J.-K.; Chen L.-R.; Lu C.-W.; Lin M.-T.; SHUENN-NAN CHIU; Chiu H.-H.; Wu M.-H.
臺大學術典藏 2021-09-14T01:40:06Z Critical Trio Exome Benefits In-Time Decision-Making for Pediatric Patients with Severe Illnesses? Wu E.-T.; Hwu W.-L.; Chien Y.-H.; Hsu C.; Chen T.-F.; Chen N.-Q.; Chou H.-C.; Tsao P.-N.; Fan P.-C.; Tsai I.-J.; Lin S.-P.; Hsieh W.-S.; Chang T.-M.; CHI-NIEN CHEN; Lee C.-H.; Chou Y.-Y.; Chiu P.-C.; Tsai W.-H.; Hsiung H.-C.; Lai F.; Lee N.-C.

Showing items 31-55 of 770  (31 Page(s) Totally)
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