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Showing items 546-595 of 770 (16 Page(s) Totally)
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Institution	Date	Title	Author
臺大學術典藏	2020-03-24T04:02:54Z	Multimodel assessment of BRCA1 mutations in Taiwanese (ethnic Chinese) women with early-onset, bilateral or familial breast cancer	Cheng A.-L.; Lin C.-H.; Sargeant A.M.; Lu Y.-S.; Bai L.-Y.; Liu T.-P.; WEN-HUNG KUO; Lin P.-H.; Huang A.-C.; Chien Y.-H.; Hsieh F.-J.; Hwu W.-L.; Chang K.-J.
臺大學術典藏	2020-03-23T07:52:30Z	Mosaic paternal haploidy in a patient with pancreatoblastoma and Beckwith–Wiedemann spectrum	Tsai W.-Y.; Lee N.-C.; Liu S.-Y.; Jong Y.-J.; Su Y.-N.; Chen M.; Yang Y.-L.; Chen H.-L.; Wu M.-Z.; Kuo K.-T.; WEN-HSI LIN; Shih J.-C.; Hwu W.-L.; Tung Y.-C.; Lee N.-C.;Tsai W.-Y.;Liu S.-Y.;Jong Y.-J.;Su Y.-N.;Chen M.;Chen H.-L.;Yang Y.-L.;Kuo K.-T.;Wu M.-Z.;WEN-HSI LIN;Shih J.-C.;Hwu W.-L.;Tung Y.-C.;Lee C.-T.; Lee C.-T.
臺大學術典藏	2020-03-12T08:24:37Z	Gene therapy for aromatic L-amino acid decarboxylase deficiency	Hwu W.-L.; Muramatsu S.-I.; SHENG-HONG TSENG; 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	2020-03-12T08:24:29Z	Modified frameless stereotactic system for intracerebral delivery of viral vector in young children	Tai C.-H.; Hwu W.-L.; Wu R.-M.; SHENG-HONG TSENG
臺大學術典藏	2020-03-11T05:22:50Z	Identification and management of cardiac perforation from a double lumen catheter in an infant [6]	Wang C.-C.;Chen Y.-W.;Wu E.-T.;Chien Y.-H.;Hwu W.-L.;Ko W.-J.;Shu-Chien Huang; Wang C.-C.; Chen Y.-W.; Wu E.-T.; Chien Y.-H.; Hwu W.-L.; Ko W.-J.; SHU-CHIEN HUANG
臺大學術典藏	2020-03-11T05:22:46Z	Mitral annuloplasty in an infant with Barth syndrome and severe mitral insufficiency: First case report and determination of annular diameter	Shu-Chien Huang;Wu E.-T.;Chiu S.;Hwu W.-L.;Wu M.-H.;Wang S.-S.; SHU-CHIEN HUANG; Wu E.-T.; Chiu S.; Hwu W.-L.; Wu M.-H.; Wang S.-S.
臺大學術典藏	2020-03-11T05:22:20Z	Efficacy and safety of intermittent hemodialysis in infants and young children with inborn errors of metabolism	Tsai I.-J.;Hwu W.-L.;Shu-Chien Huang;Lee N.-C.;Wu E.-T.;Chien Y.-H.;Tsau Y.-K.; Tsai I.-J.; Hwu W.-L.; SHU-CHIEN HUANG; Lee N.-C.; Wu E.-T.; Chien Y.-H.; Tsau Y.-K.
臺大學術典藏	2020-03-10T03:30:55Z	Hereditary fructose intolerance presenting as Reye's-like syndrome: Report of one case	Yang T.-Y.;Huey-Ling Chen;Ni Y.-H.;Hwu W.-L.;Chang M.-H.; Yang T.-Y.; HUEY-LING CHEN; Ni Y.-H.; Hwu W.-L.; Chang M.-H.
臺大學術典藏	2020-03-10T03:30:49Z	Living-related liver transplantation for methylmalonic acidemia: Report of one case	Hsui J.-Y.;Chien Y.-H.;Chu S.-Y.;Lu F.L.;Huey-Ling Chen;Ho M.-J.;Lee P.-H.;Hwu W.-L.; Hsui J.-Y.; Chien Y.-H.; Chu S.-Y.; Lu F.L.; HUEY-LING CHEN; Ho M.-J.; Lee P.-H.; Hwu W.-L.
臺大學術典藏	2020-03-10T03:30:45Z	Reye's syndrome developing in an infant on treatment of Kawasaki syndrome	Wei C.-M.;Huey-Ling Chen;Lee P.-I.;Chen C.-M.;Ma C.-Y.;Hwu W.-L.; Wei C.-M.; HUEY-LING CHEN; Lee P.-I.; Chen C.-M.; Ma C.-Y.; Hwu W.-L.
臺大學術典藏	2020-03-10T03:30:42Z	Homozygous SLC25A13 mutation in a Taiwanese patient with adult-onset citrullinemia complicated with steatosis and hepatocellular carcinoma	Tsai C.-W.; Yang C.-C.; HUEY-LING CHEN; Hwu W.-L.; Wu M.-Z.; Liu K.-L.; Wu M.-S.; Tsai C.-W.;Yang C.-C.;Huey-Ling Chen;Hwu W.-L.;Wu M.-Z.;Liu K.-L.;Wu M.-S.
臺大學術典藏	2020-03-10T03:30:37Z	Time course of acylcarnitine elevation in neonatal intrahepatic cholestasis caused by citrin deficiency	Lee N.-C.;Chien Y.-H.;Kobayashi K.;Saheki T.;Huey-Ling Chen;Chiu P.-C.;Ni Y.-H.;Chang M.-H.;Hwu W.-L.; Lee N.-C.; Chien Y.-H.; Kobayashi K.; Saheki T.; HUEY-LING CHEN; Chiu P.-C.; Ni Y.-H.; Chang M.-H.; Hwu W.-L.
臺大學術典藏	2020-03-10T03:30:29Z	Bone marrow transplantation results in donor-derived hepatocytes in an animal model of inherited cholestatic liver disease	Ling V.;Chang M.-H.;Jeng Y.-M.;Hwu W.-L.;HUEY-LING CHEN;Wang R.;HUEY-LING CHEN; HUEY-LING CHEN; Wang R.; Chen H.-L.; Hwu W.-L.; Jeng Y.-M.; Chang M.-H.; Ling V.
臺大學術典藏	2020-03-10T03:30:29Z	Chubby face and the biochemical parameters for the early diagnosis of neonatal intrahepatic cholestasis caused by citrin deficiency	Chen H.-W.; HUEY-LING CHEN; Ni Y.-H.; Lee N.-C.; Chien Y.-H.; Hwu W.-L.; Huang Y.-T.; Chiu P.-C.; Chang M.-H.
臺大學術典藏	2020-03-10T03:30:23Z	X-linked Liver Glycogenosis in a Taiwanese Family: Transmission From Undiagnosed Males	Chien Y.-H.; Ni Y.-H.; HUEY-LING CHEN; Chen S.-T.; Jeng Y.-M.; Chang M.-H.; Hwu W.-L.
臺大學術典藏	2020-03-10T03:30:10Z	Diagnosis of neonatal intrahepatic cholestasis caused by citrin deficiency using high-resolution melting analysis and a clinical scoring system	Chang M.-H.; Chang C.-C.; HUEY-LING CHEN; Chien Y.-H.; Lee N.-C.; Hwu W.-L.; Ni Y.-H.; Su Y.-N.; Chen S.-T.
臺大學術典藏	2020-03-10T03:29:49Z	Mosaic paternal haploidy in a patient with pancreatoblastoma and Beckwith–Wiedemann spectrum	Lee C.-T.;Tung Y.-C.;Hwu W.-L.;Shih J.-C.;Lin W.-H.;Wu M.-Z.;Kuo K.-T.;Yang Y.-L.;Huey-Ling Chen;Chen M.;Su Y.-N.;Jong Y.-J.;Liu S.-Y.;Tsai W.-Y.;Lee N.-C.; Lee C.-T.; Tung Y.-C.; Hwu W.-L.; Shih J.-C.; Lin W.-H.; Wu M.-Z.; Kuo K.-T.; Yang Y.-L.; HUEY-LING CHEN; Chen M.; Su Y.-N.; Jong Y.-J.; Liu S.-Y.; Tsai W.-Y.; Lee N.-C.
臺大學術典藏	2020-03-07T06:42:04Z	Mosaic paternal haploidy in a patient with pancreatoblastoma and Beckwith–Wiedemann spectrum	Lee C.-T.;Tung Y.-C.;Hwu W.-L.;Shih J.-C.;Lin W.-H.;Wu M.-Z.;Kuan-Ting Kuo;Yang Y.-L.;Chen H.-L.;Chen M.;Su Y.-N.;Jong Y.-J.;Liu S.-Y.;Tsai W.-Y.;Lee N.-C.; Lee C.-T.; Tung Y.-C.; Hwu W.-L.; Shih J.-C.; Lin W.-H.; Wu M.-Z.; KUAN-TING KUO; Yang Y.-L.; Chen H.-L.; Chen M.; Su Y.-N.; Jong Y.-J.; Liu S.-Y.; Tsai W.-Y.; Lee N.-C.
臺大學術典藏	2020-03-06T08:25:45Z	Hepatoblastoma in an infant with Beckwith-Wiedemann Syndrome.	Tsai S.Y.;Yung-Ming Jeng;Hwu W.L.;Ni Y.H.;Chang M.H.;Wang T.R.; Tsai S.Y.; YUNG-MING JENG; Hwu W.L.; Ni Y.H.; Chang M.H.; Wang T.R.
臺大學術典藏	2020-03-06T08:25:31Z	Hepatic steatosis and neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) in Taiwanese infants	Yeh J.-N.; YUNG-MING JENG; Chen H.-L.; Ni Y.-H.; Hwu W.-L.; Chang M.-H.
臺大學術典藏	2020-03-06T08:25:23Z	X-linked Liver Glycogenosis in a Taiwanese Family: Transmission From Undiagnosed Males	Chen S.-T.; Chen H.-L.; Ni Y.-H.; Chien Y.-H.; YUNG-MING JENG; Chang M.-H.; Hwu W.-L.
臺大學術典藏	2020-03-06T08:24:53Z	Glypican-3 induces oncogenicity by preventing IGF-1R degradation, a process that can be blocked by Grb10	Cheng W.;Huang P.-C.;Chao H.-M.;Yung-Ming Jeng;Hsu H.-C.;Pan H.-W.;Hwu W.-L.;Lee Y.-M.; Cheng W.; Huang P.-C.; Chao H.-M.; YUNG-MING JENG; Hsu H.-C.; Pan H.-W.; Hwu W.-L.; Lee Y.-M.
臺大學術典藏	2020-03-05T08:16:42Z	Pompe disease in infants: Improving the prognosis by newborn screening and early treatment	Chien Y.-H.; Lee N.-C.; Thurberg B.L.; Chiang S.-C.; Zhang X.K.; Keutzer J.; Huang A.-C.; Wu M.-H.; PEI-HSIN HUANG; Tsai F.-J.; Chen Y.-T.; Hwu W.-L.
臺大學術典藏	2020-03-05T08:16:42Z	Early detection of pompe disease by newborn screening is feasible: Results from the Taiwan screening program	Chien Y.-H.;Chiang S.-C.;Zhang X.K.;Keutzer J.;Lee N.-C.;Huang A.-C.;Chen C.-A.;Wu M.-H.;Pei-Hsin Huang;Tsai F.-J.;Chen Y.-T.;Hwu W.-L.; Chien Y.-H.; Chiang S.-C.; Zhang X.K.; Keutzer J.; Lee N.-C.; Huang A.-C.; Chen C.-A.; Wu M.-H.; PEI-HSIN HUANG; Tsai F.-J.; Chen Y.-T.; Hwu W.-L.
臺大學術典藏	2020-03-05T08:16:40Z	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.; PEI-HSIN HUANG; Lee W.-T.; Tsai I.-J.; Hwu W.-L.; Lee N.-C.
臺大學術典藏	2020-03-05T08:16:37Z	Clinical features of Pompe disease with motor neuronopathy	Tsai L.-K.;Hwu W.-L.;Lee N.-C.;Pei-Hsin Huang;Chien Y.-H.; Tsai L.-K.; Hwu W.-L.; Lee N.-C.; PEI-HSIN HUANG; Chien Y.-H.
臺大學術典藏	2020-03-05T07:52:26Z	Mosaic paternal haploidy in a patient with pancreatoblastoma and Beckwith–Wiedemann spectrum	Liu S.-Y.; Tsai W.-Y.; Lee N.-C.; Lee C.-T.; Tung Y.-C.; Hwu W.-L.; Shih J.-C.; Lin W.-H.; Wu M.-Z.; KUAN-TING KUO; Yang Y.-L.; Chen H.-L.; Chen M.; Su Y.-N.; Jong Y.-J.
臺大學術典藏	2020-03-05T06:05:48Z	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	2020-03-05T06:05:47Z	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	2020-03-05T06:05:47Z	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	2020-03-05T06:05:46Z	Myopathy in Gaucher disease	LI-KAI TSAI; Chien Y.-H.; Yang C.-C.; Hwu W.-L.
臺大學術典藏	2020-03-05T06:05:45Z	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	2020-03-05T06:05:43Z	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	2020-03-05T06:05:41Z	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	2020-03-05T06:05:37Z	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	2020-03-05T06:05:31Z	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	2020-03-05T06:05:29Z	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	2020-03-05T06:05:28Z	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	2020-03-05T01:18:09Z	Clinical, 18F-dopa PET, and genetic analysis of an ethnic Chinese kindred with early-onset parkinsonism and Parkin gene mutations	Wu R.-M.; Shan D.-E.; Sun C.-M.; Liu R.-S.; Hwu W.-L.; CHUN-HWEI TAI; Hussey J.; West A.; Gwinn-Hardy K.; Hardy J.; Chen J.; Farrer M.; Lincoln S.
臺大學術典藏	2020-03-05T01:18:08Z	Lack of mutations in spinocerebellar ataxia type 2 and 3 genes in a Taiwanese (Ethnic Chinese) cohort of familial and early-onset parkinsonism	Lin C.-H.; Hwu W.-L.; Chiang S.-C.; CHUN-HWEI TAI; Wu R.-M.
臺大學術典藏	2020-03-05T01:18:05Z	Gene therapy for aromatic L-amino acid decarboxylase deficiency	Hwu W.-L.; Muramatsu S.-I.; Tseng S.-H.; Tzen K.-Y.; Lee N.-C.; Chien Y.-H.; Snyder R.O.; Byrne B.J.; CHUN-HWEI TAI; Wu R.-M.
臺大學術典藏	2020-03-05T01:18:01Z	Efficacy and safety of AAV2 gene therapy in children with aromatic L-amino acid decarboxylase deficiency: an open-label, phase 1/2 trial	Chien Y.-H.; Lee N.-C.; Tseng S.-H.; CHUN-HWEI TAI; Muramatsu S.-I.; Byrne B.J.; Hwu W.-L.
臺大學術典藏	2020-03-05T01:17:59Z	Modified frameless stereotactic system for intracerebral delivery of viral vector in young children	CHUN-HWEI TAI; Hwu W.-L.; Wu R.-M.; Tseng S.-H.
臺大學術典藏	2020-03-04T07:45:12Z	Heterogeneous nonataxic phenotypes of spinocerebellar ataxia in a Taiwanese population	Chen S.-J.; Lee N.-C.; Chien Y.-H.; Hwu W.-L.; CHIN-HSIEN LIN
臺大學術典藏	2020-03-04T07:45:11Z	Parkin mutations and early-onset parkinsonism in a Taiwanese cohort	Wu R.-M.; Bounds R.; Lincoln S.; Hulihan M.; CHIN-HSIEN LIN; Hwu W.-L.; Chen J.; Gwinn-Hardy K.; Farrer M.
臺大學術典藏	2020-03-04T07:45:10Z	Lack of mutations in spinocerebellar ataxia type 2 and 3 genes in a Taiwanese (Ethnic Chinese) cohort of familial and early-onset parkinsonism	CHIN-HSIEN LIN; Hwu W.-L.; Chiang S.-C.; Tai C.-H.; Wu R.-M.
臺大學術典藏	2020-03-04T05:35:18Z	DNA haplotype analysis of CAG repeat in Taiwanese Huntington's disease patients	Wang C.K.; Wu Y.R.; Hwu W.L.; Chen C.M.; Ro L.S.; Chen S.T.; Gwinn-Hardy K.; Yang C.C.; Wu R.M.; Chen T.F.; Wang H.C.; Chao M.C.; MING-JANG CHIU; Lu C.J.; Lee-Chen G.J.
臺大學術典藏	2020-03-04T05:34:56Z	Blood beta-amyloid and tau in down syndrome: A comparison with Alzheimer's disease	Huang A.-C.; Chien Y.-H.; Hwu W.-L.; MING-JANG CHIU; Chiu Y.-N.; Lee N.-C.; Yang S.-Y.; Chieh J.-J.; Huang P.-T.; Chang L.-M.
臺大學術典藏	2020-03-04T05:34:46Z	Composite Scores of Plasma Tau and �]-Amyloids Correlate with Dementia in down Syndrome	Fang W.-Q.; Hwu W.-L.; Chien Y.-H.; Yang S.-Y.; Chieh J.-J.; Chang L.-M.; Huang A.-C.; Lee N.-C.; MING-JANG CHIU
臺大學術典藏	2020-03-03T03:06:54Z	Diffusion tensor images in children with early-treated, chronic, malignant phenylketonuric: Correlation with intelligence assessment	Peng S.S.-F.;Wen-Yih Tseng;Chien Y.-H.;Hwu W.-L.;Liu H.-M.; Peng S.S.-F.; WEN-YIH TSENG; Chien Y.-H.; Hwu W.-L.; Liu H.-M.

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