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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Institution	Date	Title	Author
臺大學術典藏	2020-12-16T02:26:06Z	Identification of forty-five novel and twenty-three known NF1 mutations in Chinese patients with neurofibromatosis type 1.	Lee M.J.;Su Y.N.;You H.L.;Chiou S.C.;Lin L.C.;Yang C.C.;Lee W.C.;Wuh-Liang Hwu;Hsieh F.J.;Stephenson D.A.;Yu C.L.; Lee M.J.; Su Y.N.; You H.L.; Chiou S.C.; Lin L.C.; Yang C.C.; Lee W.C.; WUH-LIANG HWU; Hsieh F.J.; Stephenson D.A.; Yu C.L.
臺大學術典藏	2020-12-16T02:25:52Z	Correlation of Survival Motor Neuron Expression in Leukocytes and Spinal Cord in Spinal Muscular Atrophy	Tsai L.-K.; Yang C.-C.; Ting C.-H.; Su Y.-N.; WUH-LIANG HWU; Li H.
臺大學術典藏	2020-12-16T02:25:47Z	Phenotypic analyses and mutation screening of the SLC26A4 and FOXI1 genes in 101 Taiwanese families with bilateral nonsyndromic enlarged vestibular aqueduct (DFNB4) or pendred syndrome	Hsu C.-J.; WUH-LIANG HWU; Su Y.-N.; Yeh P.-L.; Chen P.-J.; Lu Y.-C.; Wu C.-C.;Lu Y.-C.;Chen P.-J.;Yeh P.-L.;Su Y.-N.;Wuh-Liang Hwu;Hsu C.-J.; Wu C.-C.
臺大學術典藏	2020-12-16T02:25:39Z	Diagnosis of neonatal intrahepatic cholestasis caused by citrin deficiency using high-resolution melting analysis and a clinical scoring system	Chen S.-T.; Su Y.-N.; Ni Y.-H.; WUH-LIANG HWU; Lee N.-C.; Chien Y.-H.; Chang C.-C.; Chen H.-L.; Chang M.-H.
臺大學術典藏	2020-12-16T02:25:37Z	Mutation screening of the EYA1, SIX1, and SIX5 genes in an East Asian cohort with branchio-oto-renal syndrome	Wang S.-H.; Wu C.-C.; Lu Y.-C.; Lin Y.-H.; Su Y.-N.; WUH-LIANG HWU; Yu I.-S.; Hsu C.-J.
臺大學術典藏	2020-12-16T02:25:10Z	Mosaic paternal haploidy in a patient with pancreatoblastoma and Beckwith–Wiedemann spectrum	Lee C.-T.;Tung Y.-C.;Wuh-Liang Hwu;Shih J.-C.;Lin W.-H.;Wu M.-Z.;Kuo K.-T.;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.; WUH-LIANG HWU; Shih J.-C.; Lin W.-H.; Wu M.-Z.; Kuo K.-T.; 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	2020-12-09T02:07:49Z	MLPA and DNA index improve the molecular diagnosis of childhood B-cell acute lymphoblastic leukemia	Yu C.-H.; Lin T.-K.; Jou S.-T.; Lin C.-Y.; Lin K.-H.; Lu M.-Y.; Chen S.-H.; Cheng C.-N.; Wu K.-H.; Wang S.-C.; Chang H.-H.; MENG-JU LI; Ni Y.-L.; Su Y.-N.; Lin D.-T.; Chen H.-Y.; Harrison C.J.; Hung C.-C.; Lin S.-W.; Yang Y.-L.
臺大學術典藏	2020-12-09T01:38:38Z	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.;Ni-Chung Lee;Cheng W.-F.;Chen C.-P.;Lin W.-L.;Lee C.-N.;Su Y.-N.; Hung C.-C.; Lin S.-Y.; Lin S.-P.; Niu D.-M.; NI-CHUNG LEE; Cheng W.-F.; Chen C.-P.; Lin W.-L.; Lee C.-N.; Su Y.-N.
臺大學術典藏	2020-12-09T01:38:32Z	Diagnosis of neonatal intrahepatic cholestasis caused by citrin deficiency using high-resolution melting analysis and a clinical scoring system	Chen S.-T.;Su Y.-N.;Ni Y.-H.;Hwu W.-L.;Ni-Chung Lee;Chien Y.-H.;Chang C.-C.;Chen H.-L.;Chang M.-H.; Chen S.-T.; Su Y.-N.; Ni Y.-H.; Hwu W.-L.; NI-CHUNG LEE; Chien Y.-H.; Chang C.-C.; Chen H.-L.; Chang M.-H.
臺大學術典藏	2020-12-09T01:38:32Z	Novel heterozygous tissue-nonspecific alkaline phosphatase (TNAP) gene mutations causing lethal perinatal hypophosphatasia	Chang K.-C.; Lin P.-H.; Su Y.-N.; Peng S.S.-F.; NI-CHUNG LEE; Chou H.-C.; Chen C.-Y.; Hsieh W.-S.; Tsao P.-N.

Showing items 241-250 of 715 (72 Page(s) Totally)
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