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显示项目 276-300 / 715 (共29页)
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机构 日期 题名 作者
臺大學術典藏 2020-11-03T12:37:57Z Correlation of Survival Motor Neuron Expression in Leukocytes and Spinal Cord in Spinal Muscular Atrophy Li H.; Hwu W.-L.; Su Y.-N.; Ting C.-H.; Yang C.-C.; LI-KAI TSAI
臺大學術典藏 2020-11-03T11:32:31Z Six novel NPC1 mutations in Chinese patients with Niemann-Pick disease type C Su Y.-N.; Chiou P.-C.; Yang C.-C.; Fietz M.J.; Yu C.-L.; Hwu W.-L.; MING-JEN LEE
臺大學術典藏 2020-11-03T09:53:34Z Molecular and clinical analyses of 84 patients with tuberous sclerosis complex 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.; Su Y.N.; Hung C.-C.; 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 2020-10-26T11:34:49Z 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 Lo H.-M.; Huang S.K.S.; Lin J.-L.; Wu M.-H.; Lin T.-K.; Chen S.-A.; Lei M.-H.; Tsao H.-M.; Wu T.-J.; Ueng K.-C.; JYH-MING JIMMY JUANG; Su Y.-N.; Chiang F.-T.; Lai L.-P.; Ko Y.-L.; Wang C.-C.; Chen W.-J.; Yeh S.-J.; Ho Y.-L.; Liu Y.-B.
臺大學術典藏 2020-10-23T03:49:07Z Concurrent Hearing, Genetic, and Cytomegalovirus Screening in Newborns, Taiwan Lu C.-Y.; PO-NIEN TSAO; Ke Y.-Y.; Lin Y.-H.; Lin Y.-H.; Hung C.-C.; Su Y.-N.; Hsu W.-C.; Hsieh W.-S.; Huang L.-M.; Wu C.-C.; Hsu C.-J.
臺大學術典藏 2020-10-14T07:24:54Z Overexpression of Placenta Growth Factor Contributes to the Pathogenesis of Pulmonary Emphysema Tsao P.-N.; Su Y.-N.; Li H.; Huang P.-H.; Chien C.-T.; Lai Y.-L.; Lee C.-N.; Chen C.-A.; Cheng W.-F.; SHU-CHEN WEI; Yu C.-J.; Hsieh F.-J.; Hsu S.-M.
臺大學術典藏 2020-10-14T07:24:54Z Low mutation rate of hMSH2 and hMLH1 in Taiwanese hereditary non-polyposis colorectal cancer Yu C.-Y.; SHU-CHEN WEI; Wong J.-M.; Wang C.-Y.; Sheu J.-C.; Wu C.-H.H.; Su Y.-N.; Tsai-Wu J.-J.
臺大學術典藏 2020-10-14T07:24:53Z Placenta Growth Factor Elevation in the Cord Blood of Premature Neonates Predicts Poor Pulmonary Outcome Hsieh F.-J.; Hsieh W.-S.; Tsao P.-N.; SHU-CHEN WEI; Su Y.-N.; Lee C.-N.; Chou H.-C.
臺大學術典藏 2020-10-14T07:24:53Z Genetic Analysis of the APC Gene in Taiwanese Familial Adenomatous Polyposis SHU-CHEN WEI; Su Y.-N.; Tsai-Wu J.-J.; Wu C.-H.H.; Sheu J.-C.; Wang C.-Y.; Wong J.-M.
臺大學術典藏 2020-10-14T07:24:52Z Vascular endothelial growth factor in preterm infants with respiratory distress syndrome Hsieh W.-S.; SHU-CHEN WEI; Tsao P.-N.; Hsieh F.-J.; Su Y.-N.; Chen C.-Y.; Chou H.-C.
臺大學術典藏 2020-10-14T07:24:50Z Soluble vascular endothelial growth factor receptor-1 protects mice in sepsis Tsao P.-N.; Chan F.-T.; SHU-CHEN WEI; Hsieh W.-S.; Chou H.-C.; Su Y.-N.; Chen C.-Y.; Hsu W.-M.; Hsieh F.-J.; Hsu S.-M.
臺大學術典藏 2020-10-14T07:24:50Z Spectrum of mutations and variants/haplotypes of CFTR and genotype-phenotype correlation in idiopathic chronic pancreatitis and controls in Chinese by complete analysis Wong J.-M.; Liang P.-C.; Su Y.-N.; Jan I.-S.; Tien Y.-W.; Chang Y.-T.; SHU-CHEN WEI; Chang M.-C.
臺大學術典藏 2020-10-14T07:24:49Z Association of Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) mutation/variant/haplotype and Tumor Necrosis Factor (TNF) promoter polymorphism in hyperlipidemic pancreatitis Kuo C.-H.; Su Y.-N.; Su T.-C.; Liang P.-C.; Chang M.-C.; Chang Y.-T.; SHU-CHEN WEI; Wong J.-M.
臺大學術典藏 2020-10-14T07:24:48Z Association of novel chymotrypsin C gene variations and haplotypes in patients with chronic pancreatitis in Chinese in Taiwan Kuo C.-H.; Wong J.-M.; Su Y.-N.; Jan I.-S.; Liang P.-C.; Chang Y.-T.; SHU-CHEN WEI; Chang M.-C.
臺大學術典藏 2020-10-14T07:24:48Z Association and differential role of PRSS1 and SPINK1 mutation in early-onset and late-onset idiopathic chronic pancreatitis in Chinese subjects Chang M.-C.; Wong J.-M.; Su Y.-N.; Jan I.-S.; Tien Y.-W.; L P.-C.; SHU-CHEN WEI; Chang Y.-T.
臺大學術典藏 2020-10-14T07:24:47Z Clinical and genetic analysis of Peutz-Jeghers syndrome patients in Taiwan Weng M.-T.; Ni Y.-H.; Su Y.-N.; Wong J.-M.; SHU-CHEN WEI
臺大學術典藏 2020-10-14T07:24:47Z Lipoprotein lipase mutation S447X associated with pancreatic calcification and steatorrhea in hyperlipidemic pancreatitis Chang Y.-T.; Chang M.-C.; Su T.-C.; Liang P.-C.; Su Y.-N.; Kuo C.-H.; SHU-CHEN WEI; Wong J.-M.
臺大學術典藏 2020-10-14T07:24:46Z A hospital-based study of clinical and genetic features of Crohn's disease Yang H.-I.; Su Y.-N.; SHU-CHEN WEI; Ni Y.-H.; Chang M.-C.; Chang Y.-T.; Shieh M.-J.; Wang C.-Y.; Wong J.-M.
臺大學術典藏 2020-09-30T07:02:08Z Decreased neonatal hepatitis B virus (HBV) viremia by maternal tenofovir treatment predicts reduced chronic HBV infection in children born to highly viremic mothers 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); Chiu W.-T.; Lin C.-J.; Huang J.-P.; Yeung C.-Y.; Chen C.-P.; Chen C.-Y.; Wu T.-C.; Chang K.-C.; Chang M.-H.; Lee C.-N.; Chang C.-H.; Wu J.-F.; Ni Y.-H.; Wen W.-H.; Shyu M.-K.; Lai M.-W.; Chen S.-M.; Hu J.-J.; Lin H.H.; Hsu J.-J.; Peng F.-S.; Lin H.-M.; Wang T.-H.; Lo L.-M.; Hsieh C.-L.; Cheng S.-W.; Tsai M.-S.; She B.-Q.; Koh K.-J.; Hung Y.-L.; Chiueh H.-Y.; Chang Y.-L.; Cheng P.-J.; Lee C.-L.; Lau B.-H.; Mu S.-C.; Lin Y.-C.; Liu C.-J.; Chen D.-S.; Lin L.-H.; Chen H.-L.; Hwa H.-L.; Su Y.-N.; Shih J.-C.; Chao K.-H.; Hsu H.-Y.; YU-CHUN CHIU; Su T.-H.; Lin C.-C.; Lin P.-Y.; Yang W.-R.; Zhao L.-L.; Yang C.-K.; Chang Y.-K.; Chen K.-H.; Lin Y.-H.; Chen H.-J.; Pan H.-S.
臺大學術典藏 2020-09-30T07:02:06Z Long-term growth and bone development in children of HBV-infected mothers with and without fetal exposure to tenofovir disoproxil fumarate Cheng S.W.; Tsai M.S.; Lin L.H.; She B.Q.; Peng F.S.; Lin Y.C.; Chen C.P.; Huang J.P.; Hsieh C.L.; Lo L.M.; Hsu J.J.; Wang T.H.; Chen H.-L.; Shih T.T.-F.; Wu J.-F.; Ni Y.-H.; Lee C.-N.; Zhao L.-L.; Lai M.-W.; Mu S.-C.; Tung Y.-C.; Hsu H.-Y.; Chang M.-H.; Shyu M.K.; Hwa H.L.; Su Y.N.; Shih J.C.; Chao K.H.; YU-CHUN CHIU; Chang K.C.; Liu C.J.; Su T.H.; Chen D.S.; Chen S.M.; Lin C.C.; Lin P.Y.; Yang W.R.; Hu J.J.; Yang C.K.; Chang Y.K.; Chen K.H.; Lin H.H.; Lin Y.H.; Chen H.J.; Pan H.S.; Lau B.H.; Lee C.L.; Cheng P.J.; Chang Y.L.; Chiueh H.Y.; Yeung C.Y.; Taiwan Study Group for the Prevention of Mother-to-Infant Transmission of HBV (PreMIT study); Wen W.-H.
臺大學術典藏 2020-09-28T02:47:55Z Association of Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) mutation/variant/haplotype and Tumor Necrosis Factor (TNF) promoter polymorphism in hyperlipidemic pancreatitis Chang Y.-T.; Chang M.-C.; TA-CHEN SU; Liang P.-C.; Su Y.-N.; Kuo C.-H.; Wei S.-C.; Wong J.-M.
臺大學術典藏 2020-09-28T02:47:49Z Lipoprotein lipase mutation S447X associated with pancreatic calcification and steatorrhea in hyperlipidemic pancreatitis Chang Y.-T.;Chang M.-C.;Ta-Chen Su;Liang P.-C.;Su Y.-N.;Kuo C.-H.;Wei S.-C.;Wong J.-M.; Chang Y.-T.; Chang M.-C.; TA-CHEN SU; Liang P.-C.; Su Y.-N.; Kuo C.-H.; Wei S.-C.; Wong J.-M.
臺大學術典藏 2020-09-22T09:06:11Z Holt-Oram syndrome with right lung agenesis caused by a de novo mutation in the TBX5 gene [2] Tseng Y.-R.;Su Y.-N.;Lu F.L.;Jeng S.-F.;Hsieh W.-S.;Chen C.-Y.;Chou H.-C.;Steven Shinn-Forng Peng; Tseng Y.-R.; Su Y.-N.; Chen C.-Y.; Chou H.-C.; STEVEN SHINN-FORNG PENG; Lu F.L.; Jeng S.-F.; Hsieh W.-S.
臺大學術典藏 2020-09-22T09:06:06Z Novel heterozygous tissue-nonspecific alkaline phosphatase (TNAP) gene mutations causing lethal perinatal hypophosphatasia Tsao P.-N.; Hsieh W.-S.; Chen C.-Y.; Chou H.-C.; Lee N.-C.; STEVEN SHINN-FORNG PENG; Su Y.-N.; Lin P.-H.; Chang K.-C.
臺大學術典藏 2020-09-22T09:06:02Z The relationship of neuroimaging findings and neuropsychiatric comorbidities in children with tuberous sclerosis complex Huang C.-H.; STEVEN SHINN-FORNG PENG; Weng W.-C.; Su Y.-N.; Lee W.-T.; National Taiwan University Hospital Tuberous Sclerosis Complex (NTUH TSC) Study Group

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