| 臺大學術典藏 |
2020-04-24T01:34:23Z |
Newborn genetic screening for hearing impairment: A preliminary study at a tertiary center
|
Chen-Chi Wu; Hung C.-C.; Lin S.-Y.; Hsieh W.-S.; Tsao P.-N.; Lee C.-N.; Su Y.-N.; Hsu C.-J. |
| 臺大學術典藏 |
2020-04-24T01:34:19Z |
Newborn genetic screening for hearing impairment: a population-based longitudinal study
|
Chen-Chi Wu; Tsai C.-H.; Hung C.-C.; Lin Y.-H.; Lin Y.-H.; Huang F.-L.; Tsao P.-N.; Su Y.-N.; Lee Y.L.; Hsieh W.-S.; Hsu C.-J. |
| 臺大學術典藏 |
2020-04-16T02:34:31Z |
A whole genome methylation analysis of systemic lupus erythematosus: Hypomethylation of the IL10 and IL1R2 promoters is associated with disease activity
|
Lin, S.-Y.; Hsieh, S.-C.; Lin, Y.-C.; Ho, H.-N.; ERIC YAO-YU CHUANG; Lee, C.-N.; Tsai, M.-H.; Lai, L.-C.; Chuang, E.Y.; Chen, P.-C.; Hung, C.-C.; Chen, L.-Y.; Hsieh, W.S.; Niu, D.-M.; Su, Y.-N. |
| 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 |
2020-03-22T08:29:50Z |
Fragile X syndrome carrier screening in pregnant women in Chinese Han population
|
Su Y.-N.; Lin M.-W.; Jessica KANG; Tai Y.-Y.; Hsu W.-W.; Lin S.-Y.; Hung C.-C.; Lee C.-N.; Wang Y.-C.; Chen C.-L.; Lin T.-K. |
| 臺大學術典藏 |
2020-03-11T05:22:29Z |
Diagnosis of Transposition of the Great Arteries in the Fetus
|
Shih J.-C.; SHU-CHIEN HUANG; Lin C.-H.; Lin T.-H.; Su Y.-N.; Lin S.-Y.; Wu E.-T.; Shyu M.-K.; Lee C.-N. |
| 臺大學術典藏 |
2020-03-10T03:30:32Z |
Diagnosis of BSEP/ABCB11 Mutations in Asian Patients with Cholestasis Using Denaturing High Performance Liquid Chromatography
|
HUEY-LING CHEN; Liu Y.-J.; Su Y.-N.; Wang N.-Y.; Wu S.-H.; Ni Y.-H.; Hsu H.-Y.; Wu T.-C.; Chang M.-H. |
| 臺大學術典藏 |
2020-03-10T03:30:32Z |
Prenatal diagnosis of progressive familial intrahepatic cholestasis type 2
|
Su Y.-N.; HUEY-LING CHEN; Chen S.-T.; Liu Y.-J.; Ni Y.-H.; Hsu H.-Y.; Chu C.-S.; Wang N.-Y.; Chang M.-H. |
| 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 |
2020-03-10T03:29:57Z |
Efficacy of maternal tenofovir disoproxil fumarate in interrupting mother-to-infant transmission of hepatitis B virus
|
Koh K.-J.; She B.-Q.; Lin L.-H.; Cheng S.-W.; Hsieh C.-L.; Lo L.-M.; Wang T.-H.; Chang Y.-L.; Chiueh H.-Y.; Lau B.-H.; Cheng P.-J.; Pan H.-S.; Chen H.-J.; Lin Y.-H.; Chen K.-H.; Huey-Ling Chen;Lee C.-N.;Chang C.-H.;Ni Y.-H.;Shyu M.-K.;Chen S.-M.;Hu J.-J.;Lin H.H.;Zhao L.-L.;Mu S.-C.;Lai M.-W.;Lee C.-L.;Lin H.-M.;Tsai M.-S.;Hsu J.-J.;Chen D.-S.;Chan K.A.;Chang M.-H.;Su Y.-N.;Shih J.-C.;Chao K.-H.;Wu J.-F.;Hsu H.-Y.;Liu C.-J.;Su T.-H.;Lin C.-C.;Lin P.-Y.;Yang W.-R.;Yang C.-K.;Chang Y.-K.;Chen K.-H.;Lin Y.-H.;Chen H.-J.;Pan H.-S.;Lau B.-H.;Cheng P.-J.;Chang Y.-L.;Chiueh H.-Y.;Wang T.-H.;Lo L.-M.;Hsieh C.-L.;Cheng S.-W.;Lin L.-H.;She B.-Q.;Koh K.-J.;Hung Y.-L.;Peng F.-S.;Lin Y.-C.;Wu T.-C.;Chen C.-Y.;Chen C.-P.;Huang J.-P.;Yeung C.-Y.;Lin C.-J.;Chiu W.-T.;Wang D.-S.;Lin W.-T.;Hwang K.-S.;Huang C.-F.;Taiwan Study Group For The Prevention Of Mother-To-Infant Transmission Of Hbv (Premit Study); HUEY-LING CHEN; Lee C.-N.; Chang C.-H.; Ni Y.-H.; Shyu M.-K.; Chen S.-M.; Hu J.-J.; Lin H.H.; Zhao L.-L.; Mu S.-C.; Lai M.-W.; Lee C.-L.; Lin H.-M.; Tsai M.-S.; Hsu J.-J.; Chen D.-S.; Chan K.A.; Chang M.-H.; Su Y.-N.; Shih J.-C.; Chao K.-H.; Wu J.-F.; Hsu H.-Y.; Liu C.-J.; Su T.-H.; Lin C.-C.; Lin P.-Y.; Yang W.-R.; Yang C.-K.; Chang Y.-K.; Hung Y.-L.; Peng F.-S.; Lin Y.-C.; Wu T.-C.; Chen C.-Y.; Chen C.-P.; Huang J.-P.; Yeung C.-Y.; Lin C.-J.; Chiu W.-T.; Wang D.-S.; Lin W.-T.; Hwang K.-S.; Huang C.-F.; Taiwan Study Group for the Prevention of Mother-to-Infant Transmission of HBV (PreMIT Study) |
| 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 |
2020-03-10T03:29:46Z |
Decreased neonatal hepatitis B virus (HBV) viremia by maternal tenofovir treatment predicts reduced chronic HBV infection in children born to highly viremic mothers
|
Koh K.-J.; Hung Y.-L.; Lin H.-M.; Peng F.-S.; Wu T.-C.; Chen C.-Y.; Chen C.-P.; Huang J.-P.; Yeung C.-Y.; Lin C.-J.; Chiu W.-T.; Wang D.-S.; Lin W.-T.; Hwang K.-S.; Huang C.-F.; The Taiwan Study Group for the Prevention of Mother-to-Infant Transmission of HBV (PreMIT study); She B.-Q.; Tsai M.-S.; Cheng S.-W.; Hsieh C.-L.; Lo L.-M.; Wang T.-H.; Chang Y.-L.; Chiueh H.-Y.; Chang K.-C.; Chang M.-H.; Lee C.-N.; Chang C.-H.; Wu J.-F.; Ni Y.-H.; Wen W.-H.; Shyu M.-K.; Cheng P.-J.; Lee C.-L.; Lau B.-H.; Chen H.-J.; Pan H.-S.; Chen K.-H.; Lin Y.-H.; Yang C.-K.; Chang Y.-K.; Zhao L.-L.; Yang W.-R.; Lin P.-Y.; Lin C.-C.; Su T.-H.; Chiu Y.-C.; Hsu H.-Y.; Chao K.-H.; Shih J.-C.; Su Y.-N.; Hwa H.-L.; HUEY-LING CHEN; Lin L.-H.; Chen D.-S.; Liu C.-J.; Lin Y.-C.; Mu S.-C.; Lai M.-W.; Chen S.-M.; Hu J.-J.; Lin H.H.; Hsu J.-J. |
| 臺大學術典藏 |
2020-03-07T06:52:13Z |
Targeted next-generation sequencing of cancer genes identified frequent TP53 and ATRX mutations in leiomyosarcoma
|
Yang C.-Y.;Liau J.-Y.;Huang W.-J.;Chang Y.-T.;Chang M.-C.;Jen-Chieh Lee;Tsai J.-H.;Su Y.-N.;Hung C.-C.;Jeng Y.-M.; Yang C.-Y.; Liau J.-Y.; Huang W.-J.; Chang Y.-T.; Chang M.-C.; JEN-CHIEH LEE; Tsai J.-H.; Su Y.-N.; Hung C.-C.; Jeng Y.-M. |
| 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 |
2020-03-06T08:25:03Z |
Targeted next-generation sequencing of cancer genes identified frequent TP53 and ATRX mutations in leiomyosarcoma
|
Yang C.-Y.;Liau J.-Y.;Huang W.-J.;Chang Y.-T.;Chang M.-C.;Lee J.-C.;Tsai J.-H.;Su Y.-N.;Hung C.-C.;Yung-Ming Jeng; Yang C.-Y.; Liau J.-Y.; Huang W.-J.; Chang Y.-T.; Chang M.-C.; Lee J.-C.; Tsai J.-H.; Su Y.-N.; Hung C.-C.; YUNG-MING JENG |
| 臺大學術典藏 |
2020-03-05T08:16:44Z |
Overexpression of Placenta Growth Factor Contributes to the Pathogenesis of Pulmonary Emphysema
|
Tsao P.-N.;Su Y.-N.;Li H.;Pei-Hsin Huang;Chien C.-T.;Lai Y.-L.;Lee C.-N.;Chen C.-A.;Cheng W.-F.;Wei S.-C.;Yu C.-J.;Hsieh F.-J.;Hsu S.-M.; Tsao P.-N.; Su Y.-N.; Li H.; PEI-HSIN HUANG; Chien C.-T.; Lai Y.-L.; Lee C.-N.; Chen C.-A.; Cheng W.-F.; Wei S.-C.; Yu C.-J.; Hsieh F.-J.; Hsu S.-M. |
| 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 |
2020-03-05T06:38:58Z |
Targeted next-generation sequencing of cancer genes identified frequent TP53 and ATRX mutations in leiomyosarcoma
|
Yang C.-Y.; Liau J.-Y.; Huang W.-J.; Chang Y.-T.; Chang M.-C.; JEN-CHIEH LEE; Tsai J.-H.; Su Y.-N.; Hung C.-C.; Jeng Y.-M. |
| 臺大學術典藏 |
2020-03-05T06:28:38Z |
Targeted next-generation sequencing of cancer genes identified frequent TP53 and ATRX mutations in leiomyosarcoma
|
Hung C.-C.; Su Y.-N.; Tsai J.-H.; Lee J.-C.; Chang M.-C.; Chang Y.-T.; Huang W.-J.; JAU-YU LIAU; Yang C.-Y.; Yang C.-Y.;Jau-Yu Liau;Huang W.-J.;Chang Y.-T.;Chang M.-C.;Lee J.-C.;Tsai J.-H.;Su Y.-N.;Hung C.-C.;Jeng Y.-M.; Jeng Y.-M. |
| 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 |
2020-03-05T03:20:31Z |
Soluble vascular endothelial growth factor receptor-1 protects mice in sepsis
|
Tsao P.-N.;Chan F.-T.;Wei S.-C.;Hsieh W.-S.;Chou H.-C.;Su Y.-N.;Chen C.-Y.;Wen-Ming Hsu;Hsieh F.-J.;Hsu S.-M.; Tsao P.-N.; Chan F.-T.; Wei S.-C.; Hsieh W.-S.; Chou H.-C.; Su Y.-N.; Chen C.-Y.; WEN-MING HSU; Hsieh F.-J.; Hsu S.-M. |
| 臺大學術典藏 |
2020-03-05T03:20:25Z |
Epigenetic profiling of the H19 differentially methylated region and comprehensive whole genome array-based analysis in Silver-Russell syndrome
|
Lin S.-Y.;Lee C.-N.;Hung C.-C.;Tsai W.-Y.;Lin S.-P.;Li N.-C.;Hsieh W.-S.;Tung Y.-C.;Niu D.-M.;Wen-Ming Hsu;Chen L.-Y.;Fang M.-Y.;Tu M.-P.;Kuo P.-W.;Lin C.-Y.;Su Y.-N.;Ho H.-N.; Lin S.-Y.; Lee C.-N.; Hung C.-C.; Tsai W.-Y.; Lin S.-P.; Li N.-C.; Hsieh W.-S.; Tung Y.-C.; Niu D.-M.; WEN-MING HSU; Chen L.-Y.; Fang M.-Y.; Tu M.-P.; Kuo P.-W.; Lin C.-Y.; Su Y.-N.; Ho H.-N. |
| 臺大學術典藏 |
2020-03-04T09:03:21Z |
LDLR and ApoB are major genetic causes of autosomal dominant hypercholesterolemia in a taiwanese population
|
Yang K.-C.;Su Y.-N.;Shew J.-Y.;Yang K.-Y.;Tseng W.-K.;Chau-Chung Wu;Lee Y.-T.; Yang K.-C.; Su Y.-N.; Shew J.-Y.; Yang K.-Y.; Tseng W.-K.; CHAU-CHUNG WU; Lee Y.-T. |
| 臺大學術典藏 |
2020-03-04T09:03:19Z |
Corrections to the LDLR gene polymorphisms identified in a Taiwanese population [3]
|
Yang K.-C.; Su Y.-N.; Shew J.-Y.; Yang K.-Y.; Tseng W.-K.; CHAU-CHUNG WU; Lee Y.-T. |
| 臺大學術典藏 |
2020-03-03T03:06:51Z |
Generation and characterization of an ascitogenic mesothelin-expressing tumor model
|
Cheng W.-F.;Hung C.-F.;Chai C.-Y.;Chen C.-A.;Lee C.-N.;Su Y.-N.;Wen-Yih Tseng;Hsieh C.-Y.;Shih I.-M.;Wang T.-L.;Wu T.-C.; Cheng W.-F.; Hung C.-F.; Chai C.-Y.; Chen C.-A.; Lee C.-N.; Su Y.-N.; WEN-YIH TSENG; Hsieh C.-Y.; Shih I.-M.; Wang T.-L.; Wu T.-C. |
| 臺大學術典藏 |
2020-03-03T02:33:35Z |
Identification of forty-five novel and twenty-three known NF1 mutations in Chinese patients with neurofibromatosis type 1.
|
MING-JEN LEE; Su Y.N.; You H.L.; Chiou S.C.; Lin L.C.; Yang C.C.; Lee W.C.; Hwu W.L.; Hsieh F.J.; Stephenson D.A.; Yu C.L. |
| 臺大學術典藏 |
2020-03-03T02:33:35Z |
Six novel NPC1 mutations in Chinese patients with Niemann-Pick disease type C
|
Yang C.-C.; Su Y.-N.; Chiou P.-C.; Fietz M.J.; Yu C.-L.; Hwu W.-L.; MING-JEN LEE |
| 臺大學術典藏 |
2020-03-02T12:11:12Z |
Cardioembolic stroke related to limb-girdle muscular dystrophy 1B
|
Chen C.-H; SUNG-CHUN TANG; Su Y.-N; Yang C.-C; Jeng J.-S. |
| 臺大學術典藏 |
2020-03-02T08:11:25Z |
A rapid and reliable detection system for the analysis of PMP22 gene dosage by MP/DHPLC assay
|
Lin C.-Y.;Su Y.-N.;Lee C.-N.;Hung C.-C.;Cheng W.-F.;Lin W.-L.;Chen C.-A.;Sung-Tsang Hsieh; Lin C.-Y.; Su Y.-N.; Lee C.-N.; Hung C.-C.; Cheng W.-F.; Lin W.-L.; Chen C.-A.; SUNG-TSANG HSIEH |
| 臺大學術典藏 |
2020-03-02T08:11:22Z |
Use of multiplex PCR and CE for gene dosage quantification and its biomedical application for SMN, PMP22, and α-globin genes
|
Hung C.-C.;Chien S.-C.;Lin C.-Y.;Chang C.-H.;Chang Y.-F.;Jong Y.-J.;Sung-Tsang Hsieh;Hsieh W.-S.;Liu M.S.;Lin W.-L.;Lee C.-N.;Su Y.-N.; Hung C.-C.; Chien S.-C.; Lin C.-Y.; Chang C.-H.; Chang Y.-F.; Jong Y.-J.; SUNG-TSANG HSIEH; Hsieh W.-S.; Liu M.S.; Lin W.-L.; Lee C.-N.; Su Y.-N. |
| 臺大學術典藏 |
2020-03-02T08:11:20Z |
Identification of deletion and duplication genotypes of the PMP22 gene using PCR-RFLP, competitive multiplex PCR, and multiplex ligation-dependent probe amplification: A comparison
|
Hung C.-C.;Lee C.-N.;Lin C.-Y.;Cheng W.-F.;Chen C.-A.;Sung-Tsang Hsieh;Yang C.-C.;Jong Y.-J.;Su Y.-N.;Lin W.-L.; Hung C.-C.; Lee C.-N.; Lin C.-Y.; Cheng W.-F.; Chen C.-A.; SUNG-TSANG HSIEH; Yang C.-C.; Jong Y.-J.; Su Y.-N.; Lin W.-L. |
| 臺大學術典藏 |
2020-02-27T07:43:24Z |
Denaturing high-performance liquid chromatography screening of the long QT syndrome-related cardiac sodium and potassium channel genes and identification of novel mutations and single nucleotide polymorphisms
|
Ueng K.-C.; Lei M.-H.; Tsao H.-M.; Chen S.-A.; Lin T.-K.; Wu M.-H.; Lo H.-M.; Huang S.K.S.; Lin J.-L.; Lin J.-L.;Huang S.K.S.;Lo H.-M.;Wu M.-H.;Lin T.-K.;Chen S.-A.;Tsao H.-M.;Lei M.-H.;Ueng K.-C.;Wu T.-J.;Ko Y.-L.;Wang C.-C.;Yeh S.-J.;WEN-JONE CHEN;Ho Y.-L.;Liu Y.-B.;Juang J.-M.;Chiang F.-T.;Su Y.-N.;Lai L.-P.; Lai L.-P.; Su Y.-N.; Chiang F.-T.; Juang J.-M.; Liu Y.-B.; Ho Y.-L.; WEN-JONE CHEN; Yeh S.-J.; Wang C.-C.; Ko Y.-L.; Wu T.-J. |
| 臺大學術典藏 |
2020-02-27T07:43:16Z |
Erratum: Denaturing high-performance liquid chromatography screening of the long QT syndrome-related cardiac sodium and potassium channel genes and identification of novel mutations and single nucleotide polymorphisms (Journal of Human Genetics (2005) 50 (490-496) DOI: 10.1007/s10038-005-0283-3)
|
Lin J.-L.;Huang S.K.S.;Lo H.-M.;Wu M.-H.;Lin T.-K.;Chen S.-A.;Tsao H.-M.;Lei M.-H.;Ueng K.-C.;Wu T.-J.;Ko Y.-L.;Wang C.-C.;Yeh S.-J.;WEN-JONE CHEN;Ho Y.-L.;Liu Y.-B.;Juang J.-M.;Chiang F.-T.;Hsieh F.-J.;Su Y.-N.;Lai L.-P.; Lai L.-P.; Su Y.-N.; Hsieh F.-J.; Chiang F.-T.; Juang J.-M.; Liu Y.-B.; Ho Y.-L.; WEN-JONE CHEN; Yeh S.-J.; Wang C.-C.; Ko Y.-L.; Wu T.-J.; Ueng K.-C.; Lei M.-H.; Tsao H.-M.; Lin J.-L.; Huang S.K.S.; Lo H.-M.; Wu M.-H.; Chen S.-A.; Lin T.-K. |
| 臺大學術典藏 |
2020-02-27T06:39:34Z |
A hospital-based study of clinical and genetic features of Crohn's disease
|
Wei S.-C. ;Ni Y.-H. ;Yang H.-I. ;Su Y.-N. ;Chang M.-C. ;Chang Y.-T. ;Ming-Jium Shieh ;Wang C.-Y. ;Wong J.-M.; Wei S.-C.; Ni Y.-H.; Yang H.-I.; Su Y.-N.; Chang M.-C.; Chang Y.-T.; MING-JIUM SHIEH; Wang C.-Y.; Wong J.-M. |
| 臺大學術典藏 |
2020-02-26T09:01:10Z |
Denaturing HPLC coupled with multiplex PCR for rapid detection of large deletions in Duchenne muscular dystrophy carriers
|
Hung C.-C.;Su Y.-N.;Lin C.-Y.;Yang C.-C.;Lee W.-T.;Chien S.-C.;Win-Li Lin;Lee C.-N.; Hung C.-C.; Su Y.-N.; Lin C.-Y.; Yang C.-C.; Lee W.-T.; Chien S.-C.; Win-Li Lin; Lee C.-N. |
| 臺大學術典藏 |
2020-02-26T09:01:10Z |
Quantification of relative gene dosage by single-base extension and high-performance liquid chromatography: Application to the SMN1/SMN2 gene
|
Lee C.-N.; Chen C.-P.; Jong Y.-J.; Chen C.-A.; Cheng W.-F.; Win-Li Lin; Su Y.-N.; Hung C.-C.;Lee C.-N.;Chen C.-P.;Jong Y.-J.;Chen C.-A.;Cheng W.-F.;Win-Li Lin;Su Y.-N.; Hung C.-C. |
| 臺大學術典藏 |
2020-02-26T09:01:10Z |
Quantitative analysis of SMN1 and SMN2 genes based on DHPLC: A highly efficient and reliable carrier-screening test
|
Su Y.-N.;Hung C.-C.;Li H.;Lee C.-N.;Cheng W.-F.;Tsao P.-N.;Chang M.-C.;Yu C.-L.;Hsieh W.-S.;Win-Li Lin;Hsu S.-M.; Su Y.-N.; Hung C.-C.; Li H.; Lee C.-N.; Cheng W.-F.; Tsao P.-N.; Chang M.-C.; Yu C.-L.; Hsieh W.-S.; Win-Li Lin; Hsu S.-M. |
| 臺大學術典藏 |
2020-02-26T09:01:09Z |
A rapid and reliable detection system for the analysis of PMP22 gene dosage by MP/DHPLC assay
|
Chen C.-A.; Hsieh S.-T.; Lin C.-Y.;Su Y.-N.;Lee C.-N.;Hung C.-C.;Cheng W.-F.;Win-Li Lin;Chen C.-A.;Hsieh S.-T.; Lee C.-N.; Su Y.-N.; Lin C.-Y.; Win-Li Lin; Hung C.-C.; Cheng W.-F. |
| 臺大學術典藏 |
2020-02-26T09:01:07Z |
Molecular and clinical analyses of 84 patients with tuberous sclerosis complex
|
Hung C.-C.;Su Y.N.;Chien S.-C.;Liou H.-H.;Chen C.-C.;Chen P.-C.;Hsieh C.-J.;Chen C.-P.;Lee W.-T.;Win-Li Lin;Lee C.-N.; Hung C.-C.; Su Y.N.; Chien S.-C.; Liou H.-H.; Chen C.-C.; Chen P.-C.; Hsieh C.-J.; Chen C.-P.; Lee W.-T.; Win-Li Lin; Lee C.-N. |
| 臺大學術典藏 |
2020-02-26T09:01:05Z |
Denaturing high-performance liquid chromatography: An efficient screening approach in the genetic diagnosis of hemoglobin Hammersmith
|
Hung C.-C.;Chien S.-C.;Su Y.-N.;Chern J.P.S.;Lin K.-H.;Win-Li Lin; Hung C.-C.; Chien S.-C.; Su Y.-N.; Chern J.P.S.; Lin K.-H.; Win-Li Lin |
| 臺大學術典藏 |
2020-02-26T09:01:05Z |
Quantitative assay of deletion or duplication genotype by capillary electrophoresis system: Application in prader-willi syndrome and duchenne muscular dystrophy
|
Hung C.-C.;Chen C.-P.;Lin S.-P.;Chien S.-C.;Lee C.-N.;Cheng W.-F.;Hsieh W.-S.;Liu M.S.;Su Y.-N.;Win-Li Lin; Hung C.-C.; Chen C.-P.; Lin S.-P.; Chien S.-C.; Lee C.-N.; Cheng W.-F.; Hsieh W.-S.; Liu M.S.; Su Y.-N.; Win-Li Lin |
| 臺大學術典藏 |
2020-02-26T09:01:03Z |
Use of multiplex PCR and CE for gene dosage quantification and its biomedical application for SMN, PMP22, and α-globin genes
|
Hung C.-C.;Chien S.-C.;Lin C.-Y.;Chang C.-H.;Chang Y.-F.;Jong Y.-J.;Hsieh S.-T.;Hsieh W.-S.;Liu M.S.;Win-Li Lin;Lee C.-N.;Su Y.-N.; Hung C.-C.; Chien S.-C.; Lin C.-Y.; Chang C.-H.; Chang Y.-F.; Jong Y.-J.; Hsieh S.-T.; Hsieh W.-S.; Liu M.S.; Win-Li Lin; Lee C.-N.; Su Y.-N. |
| 臺大學術典藏 |
2020-02-26T09:01:00Z |
Comparison of the mismatch-specific endonuclease method and denaturing high-performance liquid chromatography for the identification of HBB gene mutations
|
Hung C.-C.; Su Y.-N.; Lin C.-Y.; Chang Y.-F.; Chang C.-H.; Cheng W.-F.; Chen C.-A.; Lee C.-N.; Win-Li Lin |
| 臺大學術典藏 |
2020-02-26T09:01:00Z |
Genotyping of the G1138A mutation of the FGFR3 gene in patients with achondroplasia using high-resolution melting analysis
|
Hung C.-C.; Lee C.-N.; Chang C.-H.; Jong Y.-J.; Chen C.-P.; Hsieh W.-S.; Su Y.-N.; Win-Li Lin |
| 臺大學術典藏 |
2020-02-26T09:01:00Z |
Identification of deletion and duplication genotypes of the PMP22 gene using PCR-RFLP, competitive multiplex PCR, and multiplex ligation-dependent probe amplification: A comparison
|
Hung C.-C.; Lee C.-N.; Lin C.-Y.; Cheng W.-F.; Chen C.-A.; Hsieh S.-T.; Yang C.-C.; Jong Y.-J.; Su Y.-N.; Win-Li Lin |
| 臺大學術典藏 |
2020-02-26T09:00:59Z |
Identification of CpG methylation of the SNRPN gene by methylation-specific multiplex PCR
|
Hung C.-C.;Lin S.-Y.;Lin S.-P.;Niu D.-M.;Lee N.-C.;Cheng W.-F.;Chen C.-P.;Win-Li Lin;Lee C.-N.;Su Y.-N.; Hung C.-C.; Lin S.-Y.; Lin S.-P.; Niu D.-M.; Lee N.-C.; Cheng W.-F.; Chen C.-P.; Win-Li Lin; Lee C.-N.; Su Y.-N. |
| 臺大學術典藏 |
2020-02-26T07:30:22Z |
Molecular and clinical analyses of 84 patients with tuberous sclerosis complex
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Hung C.-C; Su Y.N; Chien S.-C; HORNG-HUEI LIOU; Chen C.-C; Chen P.-C; Hsieh C.-J; Chen C.-P; Lee W.-T; Lin W.-L; Lee C.-N. |
| 臺大學術典藏 |
2020-02-25T06:10:37Z |
Performance of integrated membrane filtration and electrodialysis processes for copper recovery from wafer polishing wastewater
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Su, Y.-N.; Lin, W.-S.; Hou, C.-H.; Den, W.; CHIA-HUNG HOU |
| 臺大學術典藏 |
2020-02-20T06:53:19Z |
Spectrum of mutations and variants/haplotypes of CFTR and genotype-phenotype correlation in idiopathic chronic pancreatitis and controls in Chinese by complete analysis
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Chang M.-C.; Chang Y.-T.; Wei S.-C.; YU-WEN TIEN; Liang P.-C.; Jan I.-S.; Su Y.-N.; Wong J.-M. |
| 臺大學術典藏 |
2020-02-20T06:53:16Z |
Association and differential role of PRSS1 and SPINK1 mutation in early-onset and late-onset idiopathic chronic pancreatitis in Chinese subjects
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Wei S.-C.; L P.-C.; YU-WEN TIEN; Jan I.-S.; Su Y.-N.; Wong J.-M.; Chang M.-C.; Chang Y.-T. |
