| 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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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. |
| 臺大學術典藏 |
2020-02-20T02:57:00Z |
Targeted next-generation sequencing of cancer genes identified frequent TP53 and ATRX mutations in leiomyosarcoma
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CHING-YAO YANG; Liau J.-Y.; Huang W.-J.; Chang Y.-T.; Chang M.-C.; Lee J.-C.; Tsai J.-H.; Su Y.-N.; Hung C.-C.; Jeng Y.-M. |
| 臺大學術典藏 |
2020-02-17T08:07:12Z |
PGD of �]-thalassaemia and HLA haplotypes using OmniPlex whole genome amplification
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Chen S.-U;Su Y.-N;Fang M.-Y;Chang L.-J;Tsai Y.-Y;Lin L.-T;Lee C.-N;Yu-Shih Yang; Chen S.-U; Su Y.-N; Fang M.-Y; Chang L.-J; Tsai Y.-Y; Lin L.-T; Lee C.-N; YU-SHIH YANG |
| 臺大學術典藏 |
2020-02-17T08:07:07Z |
Preimplantation genetic diagnosis of �]-thalassemia using real-time polymerase chain reaction with fluorescence resonance energy transfer hybridization probes
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Hung C.-C; Chen S.-U; Lin S.-Y; Fang M.-Y; Chang L.-J; Tsai Y.-Y; Lin L.-T; YU-SHIH YANG; Lee C.-N; Su Y.-N. |
| 臺大學術典藏 |
2020-02-17T08:07:06Z |
Successful application of the strategy of blastocyst biopsy, vitrification, whole genome amplification, and thawed embryo transfer for preimplantation genetic diagnosis of neurofibromatosis type 1
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Chen Y.-L;Hung C.-C;Lin S.-Y;Fang M.-Y;Tsai Y.-Y;Chang L.-J;Lee C.-N;Su Y.-N;Chen S.-U;Yu-Shih Yang; Chen Y.-L; Hung C.-C; Lin S.-Y; Fang M.-Y; Tsai Y.-Y; Chang L.-J; Lee C.-N; Su Y.-N; Chen S.-U; YU-SHIH YANG |
| 臺大學術典藏 |
2020-02-17T08:07:05Z |
An update of preimplantation genetic diagnosis in gene diseases, chromosomal translocation, and aneuploidy screening
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Chang L.-J; Chen S.-U; Tsai Y.-Y; Hung C.-C; Fang M.-Y; Su Y.-N; YU-SHIH YANG |
| 臺大學術典藏 |
2020-02-17T08:07:03Z |
Blastocyst biopsy and vitrification are effective for preimplantation genetic diagnosis of monogenic diseases
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Chang L.-J; Huang C.-C; Tsai Y.-Y; Hung C.-C; Fang M.-Y; Lin Y.-C; Su Y.-N; Chen S.-U; YU-SHIH YANG |
| 臺大學術典藏 |
2020-02-17T07:43:43Z |
Mutation spectrum of 122 hemophilia A families from Taiwanese population by LD-PCR, DHPLC, multiplex PCR and evaluating the clinical application of HRM
|
Lin S.-Y;Su Y.-N;Hung C.-C;Tsay W;Chiou S.-S;Chang C.-T;Hong-Nerng Ho;Lee C.-N.; Lin S.-Y; Su Y.-N; Hung C.-C; Tsay W; Chiou S.-S; Chang C.-T; HONG-NERNG HO; Lee C.-N. |
| 臺大學術典藏 |
2020-02-17T07:43:41Z |
Identification of fibrillin-1 gene mutations in Marfan syndrome by high-resolution melting analysis
|
Hung C.-C;Lin S.-Y;Lee C.-N;Cheng H.-Y;Lin C.-Y;Chang C.-H;Chiu H.-H;Yu C.-C;Lin S.-P;Cheng W.-F;Hong-Nerng Ho;Niu D.-M;Su Y.-N.; Hung C.-C; Lin S.-Y; Lee C.-N; Cheng H.-Y; Lin C.-Y; Chang C.-H; Chiu H.-H; Yu C.-C; Lin S.-P; Cheng W.-F; HONG-NERNG HO; Niu D.-M; Su Y.-N. |
| 臺大學術典藏 |
2020-02-17T07:43:39Z |
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; Hsu W.-M; Chen L.-Y; Fang M.-Y; Tu M.-P; Kuo P.-W; Lin C.-Y; Su Y.-N; HONG-NERNG HO |
| 臺大學術典藏 |
2020-02-17T07:43:38Z |
Carrier screening for spinal muscular atrophy (SMA) in 107,611 pregnant women during the period 2005-2009: A prospective population-based cohort study
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Su Y.-N; Hung C.-C; Lin S.-Y; Chen F.-Y; Chern J.P.S; Tsai C; Chang T.-S; Yang C.-C; Li H; HONG-NERNG HO; Lee C.-N. |
