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

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

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Showing items 361-370 of 715 (72 Page(s) Totally)
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Institution	Date	Title	Author
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.

Showing items 361-370 of 715 (72 Page(s) Totally)
<< < 32 33 34 35 36 37 38 39 40 41 > >>
View [10|25|50] records per page