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

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機構	日期	題名	作者
臺大學術典藏	2021-06-09T08:12:19Z	Frequency and spectrum of actionable pathogenic secondary findings in Taiwanese exomes	Kuo C.-W.;Wuh-Liang Hwu;Chien Y.-H.;Hsu C.;Hung M.-Z.;Lin I.-L.;Lai F.;Lee N.-C.; Kuo C.-W.; WUH-LIANG HWU; Chien Y.-H.; Hsu C.; Hung M.-Z.; Lin I.-L.; Lai F.; Lee N.-C.
臺大學術典藏	2021-06-09T08:12:18Z	Survival and diagnostic age of 175 Taiwanese patients with mucopolysaccharidoses (1985–2019)	Lin H.-Y.;Lee C.-L.;Chang C.-Y.;Chiu P.C.;Chien Y.-H.;Niu D.-M.;Tsai F.-J.;Wuh-Liang Hwu;Lin S.J.;Lin J.-L.;Chao M.-C.;Chang T.-M.;Tsai W.-H.;Wang T.-J.;Chuang C.-K.;Lin S.-P.; Lin H.-Y.; Lee C.-L.; Chang C.-Y.; Chiu P.C.; Chien Y.-H.; Niu D.-M.; Tsai F.-J.; WUH-LIANG HWU; Lin S.J.; Lin J.-L.; Chao M.-C.; Chang T.-M.; Tsai W.-H.; Wang T.-J.; Chuang C.-K.; Lin S.-P.
臺大學術典藏	2021-06-09T08:12:18Z	Towards a reference genome that captures global genetic diversity	Wong K.H.Y.;Ma W.;Wei C.-Y.;Yeh E.-C.;Lin W.-J.;Wang E.H.F.;Su J.-P.;Hsieh F.-J.;Kao H.-J.;Chen H.-H.;Chow S.K.;Young E.;Chu C.;Poon A.;Yang C.-F.;Lin D.-S.;Hu Y.-F.;Wu J.-Y.;Lee N.-C.;Wuh-Liang Hwu;Boffelli D.;Martin D.;Xiao M.;Kwok P.-Y.; Wong K.H.Y.; Ma W.; Wei C.-Y.; Yeh E.-C.; Lin W.-J.; Wang E.H.F.; Su J.-P.; Hsieh F.-J.; Kao H.-J.; Chen H.-H.; Chow S.K.; Young E.; Chu C.; Poon A.; Yang C.-F.; Lin D.-S.; Hu Y.-F.; Wu J.-Y.; Lee N.-C.; WUH-LIANG HWU; Boffelli D.; Martin D.; Xiao M.; Kwok P.-Y.
臺大學術典藏	2021-06-09T08:12:17Z	Ultrastructural and diffusion tensor imaging studies reveal axon abnormalities in Pompe disease mice	Lee N.-C.;Peng W.-H.;Tsai L.-K.;Lu Y.-H.;Wang H.-C.;Shih Y.-C.;Pung Z.-X.;Hu H.-Y.;Wuh-Liang Hwu;Tseng W.-Y.I.;Chien Y.-H.; Lee N.-C.; Peng W.-H.; Tsai L.-K.; Lu Y.-H.; Wang H.-C.; Shih Y.-C.; Pung Z.-X.; Hu H.-Y.; WUH-LIANG HWU; Tseng W.-Y.I.; Chien Y.-H.
臺大學術典藏	2021-06-09T08:12:16Z	Dietary intake and nutritional status of patients with phenylketonuria in Taiwan	Weng H.-L.;Yang F.-J.;Chen P.-R.;Wuh-Liang Hwu;Lee N.-C.;Chien Y.-H.; Weng H.-L.; Yang F.-J.; Chen P.-R.; WUH-LIANG HWU; Lee N.-C.; Chien Y.-H.
臺大學術典藏	2021-06-09T08:12:12Z	Evaluation of 3-O-methyldopa as a biomarker for aromatic L-amino acid decarboxylase deficiency in 7 Brazilian cases	Kubaski F.; Herbst Z.M.; Pereira D.A.A.; Silva C.; Chen C.; WUH-LIANG HWU; van der Linden H.; Louren?o C.M.; Giugliani R.
臺大學術典藏	2021-06-07T07:59:33Z	Phenotype and Genotype Analyses of Ornithine Transcarbamylase Deficiency in Taiwanese	Yuan-Td Huang; Yin-Hsiu Chien; Hui-Ying Yeh; Shio-Jean Lin; FRANK LEIGH LU; Shi-Ping Chou; Jing-Meei Lin; Wuh-Liang Hwu
臺大學術典藏	2021-06-07T07:59:32Z	Living-Related Liver Transplantation for Metylmalonic Acidemia: Report of One Case	Jui-Yu Hsui; Yin-Hsiu Chien; Shao-Yin Chu; FRANK LEIGH LU; Huey-Ling Chen; Ming-Je Ho; Po-Huang Lee; Wuh-Liang Hwu
臺大學術典藏	2020-12-16T06:17:43Z	Educational Course of the Wei Foundation for Pediatric Research Brief Case Reports-Neonatal Progeroid Syndrome	Wuh-Liang ??Hwu; WUH-LIANG HWU
臺大學術典藏	2020-12-16T06:15:53Z	漢丁頓症之基因分析	Wuh-Liang ??Hwu;Shu-Chuan Chiang; WUH-LIANG HWU; Shu-Chuan Chiang
臺大學術典藏	2020-12-16T06:10:43Z	The Diagnosis and Treatment of Glycogen Storage Disease Type Ia	Wuh-Liang ??Hwu; WUH-LIANG HWU
臺大學術典藏	2020-12-16T06:07:18Z	遺傳因素造成胎兒在子宮內生長遲緩之要因與結果分析	Wuh-Liang ??Hwu; WUH-LIANG HWU
臺大學術典藏	2020-12-16T02:26:34Z	Idiopathic inflammatory bowel disease in children and adolescents.	WUH-LIANG HWU; Chang M.H.; Wang C.Y.; Huang S.H.; How S.W.; Hsieh K.H.; Hsu J.Y.
臺大學術典藏	2020-12-16T02:26:33Z	Crisis in Gaucher disease simulating osteomyelitis: report of one case.	Lai Y.C.;Wuh-Liang Hwu;Wang T.R.;Hsieh K.H.;Lee C.Y.;Li Y.W.; Lai Y.C.; WUH-LIANG HWU; Wang T.R.; Hsieh K.H.; Lee C.Y.; Li Y.W.
臺大學術典藏	2020-12-16T02:26:33Z	Hereditary progressive dystonia with marked diurnal fluctuation: report of a case.	WUH-LIANG HWU; Wang P.J.; Shen Y.Z.
臺大學術典藏	2020-12-16T02:26:33Z	A clinical study of intravenous immunoglobulin therapy for childhood idiopathic thrombocytopenic purpura	Lin D.-T.;Wuh-Liang Hwu;Lin K.-H.;Lin K.-S.; Lin D.-T.; WUH-LIANG HWU; Lin K.-H.; Lin K.-S.
臺大學術典藏	2020-12-16T02:26:33Z	Alkaptonuria in a Chinese baby	Wang T.-R.; WUH-LIANG HWU
臺大學術典藏	2020-12-16T02:26:32Z	Quantification of arylsulfatase B activity and diagnosis of Maroteaux-Lamy syndrome.	Wuh-Liang Hwu;Wang T.R.; WUH-LIANG HWU; Wang T.R.
臺大學術典藏	2020-12-16T02:26:32Z	Colocalization in pericentral hepatocytes in adult mice and similarity in developmental expression pattern of ornithine aminotransferase and glutamine synthetase mRNA	Kuo F.C.;Wuh-Liang Hwu;Valle D.;Darnell Jr. J.E.; Kuo F.C.; WUH-LIANG HWU; Valle D.; Darnell Jr. J.E.
臺大學術典藏	2020-12-16T02:26:32Z	Prader-Willi syndrome with chromosome 15 interstitial deletion: report of one case.	Wuh-Liang Hwu;Tsai W.Y.;Lee J.S.;Wang P.J.;Wang T.R.; WUH-LIANG HWU; Tsai W.Y.; Lee J.S.; Wang P.J.; Wang T.R.
臺大學術典藏	2020-12-16T02:26:32Z	A clinical observation of achondroplasia.	Wuh-Liang Hwu;Wang T.R.; WUH-LIANG HWU; Wang T.R.
臺大學術典藏	2020-12-16T02:26:32Z	Niemann-Pick disease type B with ocular involvement: report of a case.	Tsai F.J.;Peng C.T.;Tsai C.H.;Wuh-Liang Hwu;Wang T.R.; Tsai F.J.; Peng C.T.; Tsai C.H.; WUH-LIANG HWU; Wang T.R.
臺大學術典藏	2020-12-16T02:26:31Z	Measurement of urinary orotic acid by gas chromatography-mass spectrometry.	WUH-LIANG HWU; Chou S.P.; Wang T.R.
臺大學術典藏	2020-12-16T02:26:31Z	DNA fingerprinting in the Chinese with an oligonucleotide probe (GTG)5.	WUH-LIANG HWU; Chen R.L.; Lin K.H.; Wang T.R.
臺大學術典藏	2020-12-16T02:26:31Z	Transfusion?acquired cytomegalovirus infection in children in a hyperendemic area	Lee P.?I.; Chang M.?H.; WUH-LIANG HWU; Kao C.?L.; Lee C.?Y.
臺大學術典藏	2020-12-16T02:26:31Z	Y-specific polymerase chain reaction for the interpretation of a chromosome marker.	Wang T.R.;Wuh-Liang Hwu;Hou J.W.;Tsai H.M.;Liu C.H.; Wang T.R.; WUH-LIANG HWU; Hou J.W.; Tsai H.M.; Liu C.H.
臺大學術典藏	2020-12-16T02:26:31Z	Cardiovascular disorders in Turner's syndrome and its correlation to karyotype.	Hou J.W.; WUH-LIANG HWU; Tsai W.Y.; Lee J.S.; Wang T.R.; Lue H.C.
臺大學術典藏	2020-12-16T02:26:30Z	Hereditary progressive dystonia with marked diurnal fluctuation (Segawa syndrome) in Taiwan	Wang P.-J.; Ko Y.-M.; Young C.; WUH-LIANG HWU; Shen Y.-Z.
臺大學術典藏	2020-12-16T02:26:30Z	In Vitro DNA Methylation Inhibits FMR-1 Promoter	WUH-LIANG HWU; Lee Y.M.; Lee S.C.; Wang T.R.
臺大學術典藏	2020-12-16T02:26:30Z	Fragile-X mental retardation--a combination of cytogenetic and molecular approaches, with greater emphasis on DNA analysis.	Wang T.R.;Wuh-Liang Hwu;Hou J.W.;Chou S.P.;Liu C.H.; Wang T.R.; WUH-LIANG HWU; Hou J.W.; Chou S.P.; Liu C.H.
臺大學術典藏	2020-12-16T02:26:29Z	Corrigendum: Glucose-6-phosphatase gene G327A mutation is common in Chinese patients with glycogen storage disease type Ia (Human Molecular Genetics (1995) 4 (1095-1096))	Wuh-Liang Hwu;Chuang S.-C.;Tsai L.-P.;Chang M.-H.;Chang S.-M.;Wang T.-R.; WUH-LIANG HWU; Chuang S.-C.; Tsai L.-P.; Chang M.-H.; Chang S.-M.; Wang T.-R.
臺大學術典藏	2020-12-16T02:26:29Z	Molecular diagnosis of Gaucher disease type II.	Tsai F.J.;Chen H.W.;Peng C.T.;Tsai C.H.;Wuh-Liang Hwu;Wang T.R.;Liu S.C.; Tsai F.J.; Chen H.W.; Peng C.T.; Tsai C.H.; WUH-LIANG HWU; Wang T.R.; Liu S.C.
臺大學術典藏	2020-12-16T02:26:29Z	Fucosidosis in a Chinese girl	WUH-LIANG HWU; Chuang S.C.; Wang W.C.; Wang T.R.
臺大學術典藏	2020-12-16T02:26:29Z	Cytogenetic study of mentally retarded children in Taipei	Wang-Wuu S.; Lai Y.-M.; WUH-LIANG HWU; Wang T.-R.; Wuu K.-D.
臺大學術典藏	2020-12-16T02:26:29Z	Diagnosis of I-cell disease.	WUH-LIANG HWU; Chuang S.C.; Wang W.C.; Wang T.R.
臺大學術典藏	2020-12-16T02:26:28Z	Hepatoblastoma in an infant with Beckwith-Wiedemann Syndrome.	Tsai S.Y.;Jeng Y.M.;Wuh-Liang Hwu;Ni Y.H.;Chang M.H.;Wang T.R.; Tsai S.Y.; Jeng Y.M.; WUH-LIANG HWU; Ni Y.H.; Chang M.H.; Wang T.R.
臺大學術典藏	2020-12-16T02:26:28Z	Glucose-6-phosphatase gene G327A mutation is common in Chinese patients with glycogen storage disease type Ia	Wuh-Liang Hwu;Chuang S.-C.;Tsai L.-P.;Chang M.-H.;Chuang S.-M.;Wang T.-R.; WUH-LIANG HWU; Chuang S.-C.; Tsai L.-P.; Chang M.-H.; Chuang S.-M.; Wang T.-R.
臺大學術典藏	2020-12-16T02:26:28Z	Glucose-6-phosphatase gene G327A mutation is common in Chinese patients with glycogen storage disease type la	Wuh-Liang Hwu;Chuang S.-C.;Tsai L.-P.;Chang M.-H.;Chuang S.-M.;Wang T.-R.; WUH-LIANG HWU; Chuang S.-C.; Tsai L.-P.; Chang M.-H.; Chuang S.-M.; Wang T.-R.
臺大學術典藏	2020-12-16T02:26:28Z	Sex determination in infants with ambiguous genitalia using the polymerase chain reaction of SRY gene.	Tsai F.J.;Tsai C.H.;Wuh-Liang Hwu;Wang T.R.;Shu S.G.;Liu S.C.; Tsai F.J.; Tsai C.H.; WUH-LIANG HWU; Wang T.R.; Shu S.G.; Liu S.C.
臺大學術典藏	2020-12-16T02:26:27Z	FMR1 enhancer is regulated by cAMP through a cAMP-responsive element	Wuh-Liang Hwu; WUH-LIANG HWU
臺大學術典藏	2020-12-16T02:26:27Z	Ornithine transcarbamylase deficiency	Yeh S.-J.;Wuh-Liang Hwu;Tsai W.-S.;Wu T.-J.;Tuchman M.;Wang T.-R.; Yeh S.-J.; WUH-LIANG HWU; Tsai W.-S.; Wu T.-J.; Tuchman M.; Wang T.-R.
臺大學術典藏	2020-12-16T02:26:27Z	Arylsulfatase A pseudodeficiency in Chinese	Wuh-Liang Hwu;Tsai L.-P.;Wang W.-C.;Chuang S.-C.;Wang P.-J.;Wang T.-R.; WUH-LIANG HWU; Tsai L.-P.; Wang W.-C.; Chuang S.-C.; Wang P.-J.; Wang T.-R.
臺大學術典藏	2020-12-16T02:26:27Z	Diagnosis of mucopolysaccharidosis type IIIB	Wuh-Liang Hwu; WUH-LIANG HWU
臺大學術典藏	2020-12-16T02:26:27Z	Fibroblast growth factor receptor 3 (FGFR3) gene G1138A mutation in Chinese patients with achondroplasia	Wang T.-R.;Wang W.-P.;Wuh-Liang Hwu;Lee M.-L.; Wang T.-R.; Wang W.-P.; WUH-LIANG HWU; Lee M.-L.
臺大學術典藏	2020-12-16T02:26:26Z	The controversy regarding diagnostic criteria for early myoclonic encephalopathy	Wang P.-J.; Lee W.-T.; WUH-LIANG HWU; Young C.; Yau K.-I.T.; Shen Y.-Z.
臺大學術典藏	2020-12-16T02:26:26Z	Human α-L-iduronidase (IDUA) gene: Apparent recombination in intron 2 by haplotype analysis in a Taiwanese population	Lee-Chen G.-J.; Wang T.-R.; WUH-LIANG HWU; Day K.-R.; Wang C.-K.
臺大學術典藏	2020-12-16T02:26:26Z	Mucopolysaccharidosis type II (Hunter's syndrome) in Taiwan	Su P.-H.; WUH-LIANG HWU; Chiang S.-C.; Chiu P.-C.; Lin S.-J.; Shu S.-G.; Wang T.-R.
臺大學術典藏	2020-12-16T02:26:26Z	Duplication of proteolipid protein gene: A possible major cause of Pelizaeus-Merzbacher disease	Wang P.-J.;Wuh-Liang Hwu;Lee W.-T.;Wang T.-R.;Shen Y.-Z.; Wang P.-J.; WUH-LIANG HWU; Lee W.-T.; Wang T.-R.; Shen Y.-Z.
臺大學術典藏	2020-12-16T02:26:26Z	Linkage disequilibrium and linkage analysis of the glucose-6-phosphatase gene	Wong L.-J.C.; Liang M.-H.; WUH-LIANG HWU; Lam C.-W.
臺大學術典藏	2020-12-16T02:26:25Z	Allele distribution at the FMR1 locus in the general Chinese population	Chiang S.-C.;Lee Y.-M.;Wang T.-R.;Wuh-Liang Hwu; Chiang S.-C.; Lee Y.-M.; Wang T.-R.; WUH-LIANG HWU

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