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Showing items 81-105 of 156 (7 Page(s) Totally)
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Institution	Date	Title	Author
臺大學術典藏	2021-07-06T02:03:54Z	A clinical and genetic study of early-onset and familial parkinsonism in taiwan: An integrated approach combining gene dosage analysis and next-generation sequencing	Lin C.-H.;Pei-Lung Chen;Tai C.-H.;Lin H.-I.;Chen C.-S.;Chen M.-L.;Wu R.-M.; Lin C.-H.; PEI-LUNG CHEN; Tai C.-H.; Lin H.-I.; Chen C.-S.; Chen M.-L.; Wu R.-M.
臺大學術典藏	2021-07-06T02:03:54Z	Serum levels of insulin-like growth factor 1 are negatively associated with log transformation of thyroid-stimulating hormone in Graves' disease patients with hyperthyroidism or subjects with euthyroidism: A prospective observational study	Tseng F.-Y.;Chen Y.-T.;Chi Y.-C.;Pei-Lung Chen;Yang W.-S.; Tseng F.-Y.; Chen Y.-T.; Chi Y.-C.; PEI-LUNG CHEN; Yang W.-S.
臺大學術典藏	2021-07-06T02:03:54Z	HSD3B1 gene polymorphism and female pattern hair loss in women with polycystic ovary syndrome	Tu Y.-A.;Lin S.-J.;Pei-Lung Chen;Chou C.-H.;Huang C.-C.;Ho H.-N.;Chen M.-J.; Tu Y.-A.; Lin S.-J.; PEI-LUNG CHEN; Chou C.-H.; Huang C.-C.; Ho H.-N.; Chen M.-J.
臺大學術典藏	2021-07-06T02:03:53Z	Genetic epidemiology and clinical features of hereditary hearing impairment in the Taiwanese population	Wu C.-C.;Tsai C.-Y.;Lin Y.-H.;Chen P.-Y.;Lin P.-H.;Cheng Y.-F.;Wu C.-M.;Lin Y.-H.;Lee C.-Y.;Erdenechuluun J.;Liu T.-C.;Pei-Lung Chen;Hsu C.-J.; Wu C.-C.; Tsai C.-Y.; Lin Y.-H.; Chen P.-Y.; Lin P.-H.; Cheng Y.-F.; Wu C.-M.; Lin Y.-H.; Lee C.-Y.; Erdenechuluun J.; Liu T.-C.; PEI-LUNG CHEN; Hsu C.-J.
臺大學術典藏	2021-07-06T02:03:53Z	Distinctive genetic variation of long-segment Hirschsprung's disease in Taiwan	Yang W.;Chen S.-C.;Lai J.-Y.;Ming Y.-C.;Chen J.-C.;Pei-Lung Chen; Yang W.; Chen S.-C.; Lai J.-Y.; Ming Y.-C.; Chen J.-C.; PEI-LUNG CHEN
臺大學術典藏	2021-07-06T02:03:52Z	Cerebral microbleeds in autosomal dominant polycystic kidney disease	Tsai L.-K.; PEI-LUNG CHEN; Tsai H.-H.; Chen Y.-F.; Wu P.-C.; Jeng J.-S.; Huang J.-W.; Chu T.-S.; Kao J.T.-W.
臺大學術典藏	2021-07-06T02:03:52Z	Plectin Mutations in Progressive Familial Intrahepatic Cholestasis	Wu S.-H.;Hsu J.S.;Chen H.-L.;Chien M.-M.;Wu J.-F.;Ni Y.-H.;Liou B.-Y.;Ho M.-C.;Jeng Y.-M.;Chang M.-H.;Pei-Lung Chen;Chen H.-L.; Wu S.-H.; Hsu J.S.; Chen H.-L.; Chien M.-M.; Wu J.-F.; Ni Y.-H.; Liou B.-Y.; Ho M.-C.; Jeng Y.-M.; Chang M.-H.; PEI-LUNG CHEN; Chen H.-L.
臺大學術典藏	2021-07-06T02:03:51Z	Genotype-phenotype correlations of adult-onset PLA2G6-associated Neurodegeneration: Case series and literature review	Chu Y.-T.; Lin H.-Y.; PEI-LUNG CHEN; Lin C.-H.
臺大學術典藏	2021-07-06T02:03:51Z	Burden of Illness and Quality of Life in Tuberous Sclerosis Complex: Findings From the TOSCA Study	Jansen A.C.; Vanclooster S.; de Vries P.J.; Fladrowski C.; Beaure d'Aug?res G.; Carter T.; Belousova E.; Benedik M.P.; Cottin V.; Curatolo P.; Dahlin M.; D'Amato L.; Ferreira J.C.; Feucht M.; Hertzberg C.; Jozwiak S.; Lawson J.A.; Macaya A.; Marques R.; Nabbout R.; O'Callaghan F.; Qin J.; Sander V.; Sauter M.; Shah S.; Takahashi Y.; Touraine R.; Youroukos S.; Zonnenberg B.; Kingswood J.C.; Shinohara N.; Horie S.; Kubota M.; Tohyama J.; Imai K.; Kaneda M.; Kaneko H.; Uchida Y.; Kirino T.; Endo S.; Inoue Y.; Uruno K.; Serdaroglu A.; Yapici Z.; Anlar B.; Altunbasak S.; Lvova O.; Belyaev O.V.B.; Agranovich O.; Levitina E.V.L.; Maksimova Y.V.M.; Karas A.; Jiang Y.; Zou L.; Xu K.; Zhang Y.; Luan G.; Zhang Y.; Wang Y.; Jin M.; Ye D.; Ye D.; Zhou L.; Liu J.; Liao J.; YAN B.; Deng Y.; Jiang L.; Liu Z.; Huang S.; Li H.; Kim K.; PEI-LUNG CHEN; Lee H.-F.; Tsai J.-D.; Chi C.-S.; Huang C.-C.; Riney K.; Yates D.; Kwan P.; Likasitwattanakul S.; Nabangchang C.; Chomtho L.T.K.; Katanyuwong K.; Sriudomkajorn S.; Wilmshurst J.; Segel R.; Gilboa T.; Tzadok M.; Fattal-Valevski T.; Papathanasopoulos P.; Papavasiliou A.S.P.; Giannakodimos S.; Gatzonis S.; Pavlou E.; Tzoufi M.; Vergeer A.M.H.; Dhooghe M.; Verhelst H.; Roelens F.; Nassogne M.C.N.; Defresne P.; Waele L.D.W.; Leroy P.; Demonceau N.; Legros B.; Bogaert P.V.B.; Ceulemans B.; Dom L.; Castelnau P.; Martin A.D.S.; Riquet A.; Milh M.; Cances C.; Pedespan J.-M.; Ville D.; Roubertie A.; Auvin S.; Berquin P.; Richelme C.; Allaire C.; Gueden S.; Tich S.N.T.; Godet B.; da Silva Oliveira Monteiro J.P.; de Oliveira Ferreira Leao M.J.S.; Planas J.C.P.; Bermejo A.M.B.; Dura P.S.D.; Aparicio S.R.A.; Gonzalez M.J.M.; Pison J.L.P.; Barca M.O.B.; Laso E.L.L.; Luengo O.A.L.; Rodriguez F.J.A.; Dieguez I.M.D.; Salas A.C.S.; Carrera I.M.C.; Salcedo E.M.S.; Petri M.E.Y.; Candela R.C.C.; da Conceicao Carrilho I.; Vieira J.P.V.; da Silva Oliveira Monteiro J.P.; de Oliveira Ferreira Leao M.J.S.; Luis C.S.M.R.; Mendonca C.P.M.; Endziniene M.; Strautmanis J.; Talvik I.; Canevini M.P.C.; Gambardella A.; Pruna D.; Buono S.; Fontana E.; Bernardina B.D.B.; Burloiu C.; Cosma I.S.B.; Vintan M.A.V.; Popescu L.; Zitterbart K.; Payerova J.; Bratsky L.; Zilinska Z.; Sedlmayr U.G.; Baumann M.; Haberlandt E.; Rostasy K.; Pataraia E.; Elmslie F.; Johnston C.A.J.; Crawford P.; Uldall P.; Uvebrant P.; Rask O.; Bjoernvold M.; Brodtkorb E.; Sloerdahl A.; Solhoff R.; Jaatun M.S.G.; Mandera M.; Radzikowska E.J.R.; Wysocki M.; Fischereder M.; Kurlemann G.; Wilken B.; K-ruel A.W.K.; Budde K.; Marquard K.; Knuf M.; Hahn A.; Hartmann H.; Merkenschlager A.; Trollmann R.; TOSCA Consortium TOSCA Investigators; PEI-LUNG CHEN
臺大學術典藏	2021-07-06T02:03:50Z	Natural clusters of tuberous sclerosis complex (TSC)-associated neuropsychiatric disorders (TAND): New findings from the TOSCA TAND research project	De Vries P.J.; Belousova E.; Benedik M.P.; Carter T.; Cottin V.; Curatolo P.; D'Amato L.; Beure D'Aug?res G.; Ferreira J.C.; Feucht M.; Fladrowski C.; Hertzberg C.; Jozwiak S.; Lawson J.A.; Macaya A.; Marques R.; Nabbout R.; O'Callaghan F.; Qin J.; Sander V.; Sauter M.; Shah S.; Takahashi Y.; Touraine R.; Youroukos S.; Zonnenberg B.; Kingswood J.C.; Jansen A.C.; Shinohara N.; Horie S.; Kubota M.; Tohyama J.; Imai K.; Kaneda M.; Kaneko H.; Uchida Y.; Kirino T.; Endo S.; Inoue Y.; Uruno K.; Serdaroglu A.; Yapici Z.; Anlar B.; Altunbasak S.; Lvova O.; Belyaev O.V.; Agranovich O.; Levitina E.V.; Maksimova Y.V.; Karas A.; Jiang Y.; Zou L.; Xu K.; Zhang Y.; Luan G.; Zhang Y.; Wang Y.; Jin M.; Ye D.; Liao W.; Zhou L.; Liu J.; Liao J.; Yan B.; Deng Y.; Jiang L.; Liu Z.; Huang S.; Li H.; Kim K.; PEI-LUNG CHEN; Lee H.-F.; Tsai J.-D.; Chi C.-S.; Huang C.-C.; Riney K.; Yates D.; Kwan P.; Likasitwattanakul S.; Nabangchang C.; Chomtho L.T.K.; Katanyuwong K.; Sriudomkajorn S.; Wilmshurst J.; Segel R.; Gilboa T.; Tzadok M.; Fattal-Valevski A.; Papathanasopoulos P.; Papavasiliou A.S.; Giannakodimos S.; Gatzonis S.; Pavlou E.; Tzoufi M.; Vergeer A.M.H.; Dhooghe M.; Verhelst H.; Roelens F.; Nassogne M.C.; Defresne P.; De Waele L.; Leroy P.; Demonceau N.; Legros B.; Van Bogaert P.; Ceulemans B.; Dom L.; Castelnau P.; Martin A.D.S.; Riquet A.; Milh M.; Cances C.; Pedespan J.-M.; Ville D.; Roubertie A.; Auvin S.; Berquin P.; Richelme C.; Allaire C.; Gueden S.; Tich S.N.T.; Godet B.; Rojas M.L.R.F.; Planas J.C.; Bermejo A.M.; Dura P.S.; Aparicio S.R.; Gonzalez M.J.M.; Pison J.L.; Barca M.O.B.; Laso E.L.; Luengo O.A.; Rodriguez F.J.A.; Dieguez I.M.; Salas A.C.; Carrera I.M.; Salcedo E.M.; Petri M.E.Y.; Candela R.C.; Da Conceicao Carrilho I.; Vieira J.P.; Da Silva Oliveira Monteiro J.P.; De Oliveira Ferreira Leao M.J.S.; Luis C.S.M.R.; Mendonca C.P.; Endziniene M.; Strautmanis J.; Talvik I.; Canevini M.P.; Gambardella A.; Pruna D.; Buono S.; Fontana E.; Bernardina B.D.; Burloiu C.; Cosma I.S.B.; Vintan M.A.; Popescu L.; Zitterbart K.; Payerova J.; Bratsky L.; Zilinska Z.; Gruber-Sedlmayr U.; Baumann M.; Haberlandt E.; Rostasy K.; Pataraia E.; Elmslie F.; Johnston C.A.; Crawford P.; Uldall P.; Dahlin M.; Uvebrant P.; Rask O.; Bjoernvold M.; Brodtkorb E.; Sloerdahl A.; Solhoff R.; Jaatun M.S.G.; Mandera M.; Radzikowska E.J.; Wysocki M.; Fischereder M.; Kurlemann G.; Wilken B.; Wiemer-Kruel A.; Budde K.; Marquard K.; Knuf M.; Hahn A.; Hartmann H.; Merkenschlager A.; Trollmann R.; TOSCA Consortium, TOSCA Investigators; PEI-LUNG CHEN
臺大學術典藏	2021-07-06T02:03:49Z	Genotypes predispose phenotypes—clinical features and genetic spectrum of abca4-associated retinal dystrophies	Sung Y.-C.; Yang C.-H.; Yang C.-M.; Lin C.-W.; Huang D.-S.; Huang Y.-S.; Hu F.-R.; PEI-LUNG CHEN; Chen T.-C.
臺大學術典藏	2021-07-06T02:03:49Z	An integrative approach for pediatric auditory neuropathy spectrum disorders: revisiting etiologies and exploring the prognostic utility of auditory steady-state response	Lin P.-H.; Hsu C.-J.; Lin Y.-H.; Lin Y.-H.; Yang S.-Y.; Yang T.-H.; PEI-LUNG CHEN; Wu C.-C.; Liu T.-C.
臺大學術典藏	2021-07-06T02:03:49Z	The efficacy and safety of topical rapamycin–calcitriol for facial angiofibromas in patients with tuberous sclerosis complex: a prospective, double-blind, randomized clinical trial	PEI-LUNG CHEN; Hong J.B.; Shen L.J.; Chen Y.T.; Wang S.J.; Liao Y.H.
臺大學術典藏	2021-07-06T02:03:48Z	Investigating DYT1 in a Taiwanese dystonia cohort	Wu M.-C.; Chang Y.-Y.; Chen Y.-F.; Lan M.-Y.; PEI-LUNG CHEN; Tai C.-H.; Lin C.-H.
臺大學術典藏	2021-07-06T02:03:48Z	Hereditary hearing impairment with cutaneous abnormalities	Lee T.-L.; Lin P.-H.; PEI-LUNG CHEN; Hong J.-B.; Wu C.-C.
臺大學術典藏	2021-07-06T02:03:47Z	Next-generation sequencing and bioinformatics to identify genetic causes of malignant hyperthermia	Yeh H.-M.; Liao M.-H.; Chu C.-L.; Lin Y.-H.; Sun W.-Z.; Lai L.-P.; PEI-LUNG CHEN
臺大學術典藏	2021-07-06T02:03:47Z	Genetic study of young-onset dementia using targeted gene panel sequencing in Taiwan	Hsu J.-L.; Lin C.-H.; PEI-LUNG CHEN; Lin K.-J.; Chen T.-F.
臺大學術典藏	2021-07-06T02:03:47Z	Metabolic syndromes as important comorbidities in patients of inherited retinal degenerations: Experiences from the nationwide health database and a large hospital-based cohort	Chiou G.-J.; Huang D.-S.; Hu F.-R.; Yang C.-M.; Yang C.-H.; Huang C.-W.; Lin J.-W.; Lin C.-W.; Ho T.-C.; Hsieh Y.-T.; Lai T.-T.; Chen H.-M.; PEI-LUNG CHEN; Hsiao C.K.; Chen T.-C.
臺大學術典藏	2021-07-06T02:03:46Z	Genetic characteristics and epidemiology of inherited retinal degeneration in Taiwan	Chen T.-C.; Huang D.-S.; Lin C.-W.; Yang C.-H.; Yang C.-M.; Wang V.Y.; Lin J.-W.; Luo A.C.; Hu F.-R.; PEI-LUNG CHEN
臺大學術典藏	2021-06-03T06:02:05Z	Genotypes predispose phenotypes�Xclinical features and genetic spectrum of abca4-associated retinal dystrophies	Sung Y.-C.; Yang C.-H.; Yang C.-M.; Lin C.-W.; Huang D.-S.; Huang Y.-S.; Hu F.-R.; PEI-LUNG CHEN; Chen T.-C.
臺大學術典藏	2021-06-03T06:02:05Z	Hereditary hearing impairment with cutaneous abnormalities	Lee T.-L.; Lin P.-H.; PEI-LUNG CHEN; Hong J.-B.; Wu C.-C.
臺大學術典藏	2021-06-03T06:02:04Z	Genetic study of young-onset dementia using targeted gene panel sequencing in Taiwan	Hsu J.-L.; Lin C.-H.; PEI-LUNG CHEN; Lin K.-J.; Chen T.-F.
臺大學術典藏	2021-06-03T06:02:04Z	Metabolic syndromes as important comorbidities in patients of inherited retinal degenerations: Experiences from the nationwide health database and a large hospital-based cohort	Chiou G.-J.; Huang D.-S.; Hu F.-R.; Yang C.-M.; Yang C.-H.; Huang C.-W.; Lin J.-W.; Lin C.-W.; Ho T.-C.; Hsieh Y.-T.; Lai T.-T.; Chen H.-M.; PEI-LUNG CHEN; Hsiao C.K.; Chen T.-C.
臺大學術典藏	2021-06-03T06:02:04Z	Next-generation sequencing and bioinformatics to identify genetic causes of malignant hyperthermia	Yeh H.-M.; Liao M.-H.; Chu C.-L.; Lin Y.-H.; Sun W.-Z.; Lai L.-P.; PEI-LUNG CHEN
臺大學術典藏	2021-06-03T06:02:03Z	Genetic characteristics and epidemiology of inherited retinal degeneration in Taiwan	Chen T.-C.; Huang D.-S.; Lin C.-W.; Yang C.-H.; Yang C.-M.; Wang V.Y.; Lin J.-W.; Luo A.C.; Hu F.-R.; PEI-LUNG CHEN

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