| 臺大學術典藏 |
2022-07-15T10:33:46Z |
Corneal opacity and congenital glaucoma associated with massive heparan sulfaturia: report of one case
|
Lin, S C; FUNG-RONG HU; Hou, J W; Yao, Y T; Wang, T R; Hung, P T |
| 臺大學術典藏 |
2022-03-10T07:58:52Z |
Molecular genetic study of Pompe disease in Chinese patients in Taiwan
|
Ko T.-M.; Hwu W.-L.; Lin Y.-W.; LI-HUI TSENG; Hwa H.-L.; Wang T.-R.; Chuang S.-M. |
| 臺大學術典藏 |
2022-03-10T07:58:52Z |
Erratum: Molecular genetic study of Pompe disease in Chinese patients in Taiwan (Human Mutation (1999) 13 (380-384))
|
Ko T.-M.; Hwu W.-L.; Lin Y.-W.; LI-HUI TSENG; Hwa H.-L.; Wang T.-R.; Chuang S.- M.; Hayashi K. |
| 臺大學術典藏 |
2022-03-09T06:48:39Z |
Camptomelic dysplasia: report of one case
|
Tsao, P. N.; Teng, R. J.; WUH-LIANG HWU; Tsou Yau, K. I.; Wang, T. R. |
| 臺大學術典藏 |
2022-03-09T06:20:21Z |
Sex determination in infants with ambiguous genitalia using the polymerase chain reaction of an X-Y homologous region
|
Tsai, C. H.; Tsai, F. J.; WUH-LIANG HWU; Wang, T. R.; Shu, S. G.; Liu, S. C. |
| 臺大學術典藏 |
2021-08-23T01:36:01Z |
High frequency of two mutations in codon 778 in exon 8 of the ATP7B gene in Taiwanese families with Wilson disease
|
Chuang L.-M.; HUEY-PEIR WU; Jang M.-H.; Wang T.-R.; Sue W.-C.; Lin B.J.; Cox D.W.; Tai T.-Y. |
| 臺大學術典藏 |
2021-07-08T03:25:54Z |
Bony changes in common mucopolysaccharidoses
|
SHYH-JYE CHEN; Li, Y W; Wang, T R; Hsu, J C |
| 臺大學術典藏 |
2021-06-29T08:16:07Z |
Kleine-Levin syndrome in a boy with Prader-Willi syndrome
|
Gau S.-F.; Soong W.-T.; Liu H.-M.; Hou J.-W.; Tsai W.-Y.; YEN-NAN CHIU; Yeh Y.-C.; Wang P.-J.; Wang T.-R. |
| 臺大學術典藏 |
2021-06-29T08:16:06Z |
Treatment and outcome of Taiwanese patients with 6-pyruvoyltetrahydropterin synthase gene mutations
|
Chien Y.-H.; Chiang S.-C.; Huang A.; Lin J.-M.; YEN-NAN CHIU; Chou S.-P.; Chu S.-Y.; Wang T.-R.; Hwu W.-L. |
| 臺大學術典藏 |
2021-06-29T08:16:05Z |
Phenylalanine hydroxylase deficiency: Intelligence of patients after early dietary treatment
|
Chien Y.-H.; Chiang S.-C.; Huang A.; Lin J.-M.; YEN-NAN CHIU; Chou S.-P.; Wang T.-R.; Hwu W.-L. |
| 臺大學術典藏 |
2021-06-11T02:56:22Z |
Trisomy 18 in a patient with CHARGE association.
|
WANG-TSO LEE; Hou J.W.; Yau K.I.; Wang T.R. |
| 臺大學術典藏 |
2021-06-11T02:54:15Z |
Duplication of proteolipid protein gene: A possible major cause of Pelizaeus-Merzbacher disease
|
Wang P.-J.; Hwu W.-L.; WANG-TSO LEE; Wang T.-R.; Shen Y.-Z. |
| 臺大學術典藏 |
2021-06-11T02:54:15Z |
Cytochrome C oxidase deficiency in fibroblasts of a patient with mitochondrial encephalomyopathy
|
WANG-TSO LEE; Wang P.-J.; Young C.; Wang T.-R.; Shen Y.-Z. |
| 臺大學術典藏 |
2021-05-26T03:36:28Z |
Common variable immunodeficiency: An immunological study
|
Tsai K.S.; Chuang C.Y.; Hsieh K.H.; Wang T.R.; KWEN-TAY LUH; Hsu H.C. |
| 臺大學術典藏 |
2021-05-18T05:54:27Z |
Author Correction: Hyperpolarization of the subthalamic nucleus alleviates hyperkinetic movement disorders (Scientific Reports, (2020), 10, 1, (8278), 10.1038/s41598-020-65211-w)
|
Tai C.-H.; Pan M.-K.; SHENG-HONG TSENG; Wang T.-R.; Kuo C.-C. |
| 臺大學術典藏 |
2021-05-18T05:54:27Z |
Hyperpolarization of the subthalamic nucleus alleviates hyperkinetic movement disorders
|
Tai C.-H.;Pan M.-K.;Sheng-Hong Tseng;Wang T.-R.;Kuo C.-C.; Tai C.-H.; Pan M.-K.; SHENG-HONG TSENG; Wang T.-R.; Kuo C.-C. |
| 臺大學術典藏 |
2021-03-10T08:56:26Z |
Common variable immunodeficiency: An immunological study
|
Keh-Sung Tsai;Chuang C.Y.;Hsieh K.H.;Wang T.R.;Luh K.T.;Hsu H.C.; KEH-SUNG TSAI; Chuang C.Y.; Hsieh K.H.; Wang T.R.; Luh K.T.; Hsu H.C. |
| 臺大學術典藏 |
2021-01-08T02:16:47Z |
Homocystinuria presenting as fatal common carotid artery occlusion
|
Chiu H.-H.; Wang T.-R.; Wang P.-J.; Hou J.-W.; CHUN-YI LU; Chun-Yi Lu;Hou J.-W.;Wang P.-J.;Chiu H.-H.;Wang T.-R. |
| 臺大學術典藏 |
2021-01-06T05:51:04Z |
Microdeletion of chromosomal region 22q11 in DiGeorge syndrome: report of a case.
|
Hou J.W.; Hou J.W.;Jou-Kou Wang;Chou C.C.;Wang T.R.; JOU-KOU WANG; Chou C.C.; Wang T.R. |
| 臺大學術典藏 |
2021-01-06T05:51:00Z |
Microdeletion of chromosomal region 7q11.23 in Willias syndrome
|
Hou J.-W.;Jou-Kou Wang;Wang T.-R.; Hou J.-W.; JOU-KOU WANG; Wang T.-R. |
| 臺大學術典藏 |
2021-01-06T05:51:00Z |
CATCH 22: Deletion of locus 22Q11 in velocardiofacial syndrome, digeorge anomaly, and nonsyndromic conotruncal defects
|
Hou J.-W.; JOU-KOU WANG; Tsai W.-Y.; Chou C.-C.; Wang T.-R. |
| 臺大學術典藏 |
2021-01-06T05:50:54Z |
Congenital contractural arachnodactyly (Beals syndrome)
|
Su P.-H.;Hou J.-W.;Hwu W.-L.;Wu M.-H.;Jou-Kou Wang;Wang T.-R.; Su P.-H.; Hou J.-W.; Hwu W.-L.; Wu M.-H.; JOU-KOU WANG; Wang T.-R. |
| 臺大學術典藏 |
2021-01-05T08:07:57Z |
Congenital contractural arachnodactyly (Beals syndrome)
|
Su P.-H.;Hou J.-W.;Hwu W.-L.;Mei-Hwan Wu;Wang J.-K.;Wang T.-R.; Su P.-H.; Hou J.-W.; Hwu W.-L.; MEI-HWAN WU; Wang J.-K.; Wang T.-R. |
| 臺大學術典藏 |
2021-01-04T07:41:22Z |
Neonatal hepatitis: A follow-up study
|
MEI-HWEI CHANG; Hsu H.C.; Lee C.Y.; Wang T.R.; Kao C.L. |
| 臺大學術典藏 |
2021-01-04T07:41:21Z |
Neonatal hepatitis: A follow-up study
|
MEI-HWEI CHANG; Hsu H.-C.; Lee C.-Y.; Wang T.-R.; Kao C.-L. |
| 臺大學術典藏 |
2021-01-04T07:41:14Z |
Wilson disease presenting as fulminant hepatic failure, acute hemolytic anemia and renal failure: report of one case
|
Hsu H.C.; Wang T.R.; Hsu Y.H.; MEI-HWEI CHANG; Tseng C.L.;Tsai S.L.;Lin K.H.;Mei-Hwei Chang;Wang T.R.;Hsu Y.H.;Hsu H.C.; Tseng C.L.; Tsai S.L.; Lin K.H. |
| 臺大學術典藏 |
2021-01-04T07:38:59Z |
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))
|
MEI-HWEI CHANG; Chang S.-M.; Wang T.-R.; Hwu W.-L.;Chuang S.-C.;Tsai L.-P.;Mei-Hwei Chang;Chang S.-M.;Wang T.-R.; Hwu W.-L.; Chuang S.-C.; Tsai L.-P. |
| 臺大學術典藏 |
2021-01-04T07:38:56Z |
Glucose-6-phosphatase gene G327A mutation is common in Chinese patients with glycogen storage disease type Ia
|
Hwu W.-L.;Chuang S.-C.;Tsai L.-P.;Mei-Hwei Chang;Chuang S.-M.;Wang T.-R.; Hwu W.-L.; Chuang S.-C.; Tsai L.-P.; MEI-HWEI CHANG; Chuang S.-M.; Wang T.-R. |
| 臺大學術典藏 |
2021-01-04T07:38:56Z |
Glucose-6-phosphatase gene G327A mutation is common in Chinese patients with glycogen storage disease type la
|
Hwu W.-L.;Chuang S.-C.;Tsai L.-P.;Mei-Hwei Chang;Chuang S.-M.;Wang T.-R.; Hwu W.-L.; Chuang S.-C.; Tsai L.-P.; MEI-HWEI CHANG; Chuang S.-M.; Wang T.-R. |
| 臺大學術典藏 |
2021-01-04T07:38:55Z |
Hepatoblastoma in an infant with Beckwith-Wiedemann Syndrome.
|
Tsai S.Y.;Jeng Y.M.;Hwu W.L.;Ni Y.H.;Mei-Hwei Chang;Wang T.R.; Tsai S.Y.; Jeng Y.M.; Hwu W.L.; Ni Y.H.; MEI-HWEI CHANG; Wang T.R. |
| 臺大學術典藏 |
2021-01-04T07:38:43Z |
Glucose-6-phosphatase gene mutations in Taiwan Chinese patients with glycogen storage disease type Ia
|
Chiang S.-C.;Lee Y.-M.;Mei-Hwei Chang;Wang T.-R.;Ko T.-M.;Hwu W.-L.; Chiang S.-C.; Lee Y.-M.; MEI-HWEI CHANG; Wang T.-R.; Ko T.-M.; Hwu W.-L. |
| 臺大學術典藏 |
2021-01-04T07:38:43Z |
Hypercalcaemia in glycogen storage disease type Ia: A case with R83H and 341delG mutations
|
Hwu W.-L.;Chiang S.-C.;Huang S.-F.;Mei-Hwei Chang;Wen W.-H.;Wang T.-R.; Hwu W.-L.; Chiang S.-C.; Huang S.-F.; MEI-HWEI CHANG; Wen W.-H.; Wang T.-R. |
| 臺大學術典藏 |
2021-01-04T07:38:42Z |
Carnitine transport defect presenting with hyperammonemia: Report of one case
|
Hwu W.-L.;Chiang S.-C.;Mei-Hwei Chang;Wang T.-R.; Hwu W.-L.; Chiang S.-C.; MEI-HWEI CHANG; Wang T.-R. |
| 臺大學術典藏 |
2020-12-24T06:17:24Z |
Treatment and outcome of Taiwanese patients with 6-pyruvoyltetrahydropterin synthase gene mutations
|
YIN-HSIU CHIEN; Chiang S.-C.; Huang A.; Lin J.-M.; Chiu Y.-N.; Chou S.-P.; Chu S.-Y.; Wang T.-R.; Hwu W.-L. |
| 臺大學術典藏 |
2020-12-24T06:17:23Z |
Cranial MR spectroscopy of tetrahydrobiopterin deficiency
|
Hwu W.-L.; Wang T.-R.; Peng S.-F.; YIN-HSIU CHIEN |
| 臺大學術典藏 |
2020-12-24T06:17:14Z |
Phenylalanine hydroxylase deficiency: Intelligence of patients after early dietary treatment
|
YIN-HSIU CHIEN; Chiang S.-C.; Huang A.; Lin J.-M.; Chiu Y.-N.; Chou S.-P.; Wang T.-R.; Hwu W.-L. |
| 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 |
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 |
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 |
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 |
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. |
