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机构 日期 题名 作者
臺大學術典藏 2021-07-06T02:03:57Z Unique spectra of deafness-associated mutations in Mongolians provide insights into the genetic relationships among Eurasian populations Erdenechuluun J.; Lin Y.-H.; Ganbat K.; Bataakhuu D.; Makhbal Z.; Tsai C.-Y.; Lin Y.-H.; Chan Y.-H.; Hsu C.-J.; Hsu W.-C.; PEI-LUNG CHEN; Wu C.-C.
臺大學術典藏 2021-07-06T02:03:56Z Clinical characteristics of subependymal giant cell astrocytoma in tuberous sclerosis complex Jansen A.C.; Belousova E.; Benedik M.P.; Carter T.; Cottin V.; Curatolo P.; Dahlin M.; D'Amato L.; D'Aug?res G.B.; De Vries P.J.; 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.; 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.; De Saint Martin A.; 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.; 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 2021-07-06T02:03:56Z P53 ICE CRIM mouse: A tool to generate mutant allelic series in somatic cells and germ lines for cancer studies Fan H.-H.;Shing Yu I.;Lin Y.-H.;Wang S.-Y.;Liaw Y.-H.;Pei-Lung Chen;Yang T.-L.;Lin S.-W.;Chen Y.-T.; Fan H.-H.; Shing Yu I.; Lin Y.-H.; Wang S.-Y.; Liaw Y.-H.; PEI-LUNG CHEN; Yang T.-L.; Lin S.-W.; Chen Y.-T.
臺大學術典藏 2021-07-06T02:03:55Z Epilepsy in tuberous sclerosis complex: Findings from the TOSCA Study Nabbout R.; Belousova E.; Benedik M.P.; Carter T.; Cottin V.; Curatolo P.; Dahlin M.; D?Amato L.; d'Aug?res G.B.; de Vries P.J.; Ferreira J.C.; Feucht M.; Fladrowski C.; Hertzberg C.; Jozwiak S.; Lawson J.A.; Macaya A.; Marques R.; O'Callaghan F.; Qin J.; Sander V.; Sauter M.; Shah S.; Takahashi Y.; Touraine R.; Youroukos S.; Zonnenberg B.; Jansen A.; Kingswood J.C.; Shinohara N.; Horie S.; Kubota M.; Tohyama J.; Imai K.; Kaneda M.; Kaneko H.; Uchida Y.; Endo S.; Inoue Y.; Uruno K.; Serdaroglu A.; Yapici Z.; Anlar B.; Altunbasak S.; Lvova O.; Valeryevich Belyaev O.; Agranovich O.; Vladislavovna Levitina E.; Vladimirovna Maksimova Y.; 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.; Thampratankul Krisnachai Chomtho L.; Katanyuwong K.; Sriudomkajorn S.; Wilmshurst J.; Segel R.; Gilboa T.; Tzadok M.; Fattal-Valevski A.; Papathanasopoulos P.; Syrigou Papavasiliou A.; Giannakodimos S.; Gatzonis S.; Pavlou E.; Tzoufi M.; Dhooghe M.; Verhelst H.; Roelens F.; Cecile Nassogne M.; Defresne P.; De Waele L.; Leroy P.; Demonceau N.; Van Bogaert P.; Ceulemans B.; Dom L.; Castelnau P.; De Saint Martin A.; Riquet A.; Milh M.; Cances C.; Pedespan J.-M.; Ville D.; Roubertie A.; Auvin S.; Berquin P.; Richelme C.; Allaire C.; Gueden S.; Nguyen The Tich S.; 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.; Blanco Barca M.O.; 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.; Carrilho I.D.C.; Vieira J.P.; Monteiro J.P.D.S.O.; Leao M.J.S.D.O.F.; Luis C.S.M.R.; Pires Mendonca C.; 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.; Haberlandt E.; Rostasy K.; Pataraia E.; Elmslie F.; Ann Johnston C.; Crawford P.; Uldall P.; Uvebrant P.; Rask O.; Bjoernvold M.; 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.; the TOSCA Consortium; TOSCA Investigators; PEI-LUNG CHEN
臺大學術典藏 2021-07-06T02:03:55Z Newly diagnosed and growing subependymal giant cell astrocytoma in adults with tuberous sclerosis complex: Results from the International TOSCA Study Jansen A.C.; Belousova E.; Benedik M.P.; Carter T.; Cottin V.; Curatolo P.; D'Amato L.; D'Aug?res G.B.; De Vries P.J.; 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.; Fladrowsk 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.; Krisnachai Chomtho L.T.; 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.; De Saint Martin A.; Riquet A.; Milh M.; Cances C.; Pedespan J.-M.; Ville D.; Roubertie A.; Auvin S.; Berquin P.; Richelme C.; Allaire C.; Gueden S.; The Tich S.N.; Godet B.; Ruiz Falco Rojas M.L.; Planas J.C.; Bermejo A.M.; Dura P.S.; Aparicio S.R.; Martinez Gonzalez M.J.; Pison J.L.; Blanco Barca M.O.; Laso E.L.; Luengo O.A.; Aguirre Rodriguez F.J.; Dieguez I.M.; Salas A.C.; Carrera I.M.; Salcedo E.M.; Yoldi Petri M.E.; Candela R.C.; Da Conceicao Carrilho I.; Vieira J.P.; Da Silva Oliveira Monteiro J.P.; Santos De Oliveira Ferreira Leao M.J.; Marceano Ribeiro Luis C.S.; Mendonca C.P.; Endziniene M.; Strautmanis J.; Talvik I.; Canevini M.P.; Gambardella A.; Pruna D.; Buono S.; Fontana E.; Dalla Bernardina B.; Burloiu C.; Bacos Cosma I.S.; 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.; Gilje Jaatun M.S.; 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.; on behalf of TOSCA Consortium; TOSCA Investigators; PEI-LUNG CHEN
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
臺大學術典藏 2021-03-14T23:24:48Z Genetic study of young-onset dementia using targeted gene panel sequencing in Taiwan Hsu, Jung Lung; CHIN-HSIEN LIN; PEI-LUNG CHEN; Lin, Kun Ju; TA-FU CHEN
臺大學術典藏 2021-03-14T23:24:35Z Genetic characteristics and epidemiology of inherited retinal degeneration in Taiwan TA-CHING CHEN; Huang, Ding Siang; Lin, Chao Wen; CHANG-HAO YANG; CHUNG-MAY YANG; Wang, Victoria Y.; JOU-WEI LIN; Luo, Allen Chilun; FUNG-RONG HU; PEI-LUNG CHEN
臺大學術典藏 2021-03-14T23:24:34Z Metabolic syndromes as important comorbidities in patients of inherited retinal degenerations: Experiences from the nationwide health database and a large hospital-based cohort Chiou, Guann Jye; Huang, Ding Siang; FUNG-RONG HU; CHUNG-MAY YANG; CHANG-HAO YANG; Huang, Ching Wen; JOU-WEI LIN; Lin, Chao Wen; TZYY-CHANG HO; Hsieh, Yi Ting; Lai, Tso Ting; Chen, Ho Min; PEI-LUNG CHEN; CHUHSING KATE HSIAO; TA-CHING CHEN
臺大學術典藏 2021-01-18T09:12:02Z Hereditary hearing impairment with cutaneous abnormalities Lee, Tung Lin; PEI-HSUAN LIN; PEI-LUNG CHEN; JIN-BON HONG; CHEN-CHI WU
臺大學術典藏 2020-10-26T01:48:49Z Prediction Model for Audiological Outcomes in Patients with GJB2 Mutations Chen P.-Y.; Lin Y.-H.; Liu T.-C.; Lin Y.-H.; Tseng L.-H.; Yang T.-H.; PEI-LUNG CHEN; Wu C.-C.; Hsu C.-J.
臺大學術典藏 2020-10-26T01:48:48Z 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.; Chu Y.-T.; Lin H.-Y.; PEI-LUNG CHEN; Lin C.-H.
臺大學術典藏 2020-10-26T01:48:48Z Next-generation sequencing and bioinformatics to identify genetic causes of malignant hyperthermia Liao M.-H.; Chu C.-L.; Lin Y.-H.; Sun W.-Z.; Lai L.-P.; PEI-LUNG CHEN; Yeh H.-M.; 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 2020-10-26T01:48:48Z 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.; 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 2020-10-26T01:48:47Z 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.; PEI-LUNG CHEN; Hong J.B.; Shen L.J.; Chen Y.T.; Wang S.J.; Liao Y.H.
臺大學術典藏 2020-10-26T01:48:46Z 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.; 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 2020-03-02T08:20:29Z Genetic determinants of antithyroid drug-induced agranulocytosis by human leukocyte antigen genotyping and genome-wide association study PEI-LUNG CHEN; Shih, Shyang-Rong; Wang, Pei-Wen; Lin, Ying-Chao; Chu, Chen-Chung; Lin, Jung-Hsin; Chen, Szu-Chi; Chang, Ching-Chung; Huang, Tien-Shang; Tsai, Keh Sung; Tseng, Fen-Yu; Wang, Chih-Yuan; Lu, Jin-Ying; Chiu, Wei-Yih; Chang, Chien-Ching; Chen, Yu-Hsuan; Chen, Yuan-Tsong; Fann, Cathy Shen-Jang; Yang, Wei-Shiung; Chang, Tien-Chun
臺大學術典藏 2019-10-23T13:07:13Z Genetic Epidemiology and Clinical Features of Hereditary Hearing Impairment in the Taiwanese Population TIEN-CHEN LIU;CHEN-CHI WU;PEI-LUNG CHEN;Wu, Che Ming;Chen, Pey Yu;Lin, Yi Hsin;Lin, Yin Hung;Tsai, Cheng Yu;Erdenechuluun, Jargalkhuu;Hsu, Chuan Jen;Cheng, Yen Fu;Lee, Chee Yee;Lin, Pei Hsuan; Lin, Pei Hsuan; PEI-LUNG CHEN; Lee, Chee Yee; Cheng, Yen Fu; Hsu, Chuan Jen; Erdenechuluun, Jargalkhuu; Tsai, Cheng Yu; Lin, Yin Hung; CHEN-CHI WU; Lin, Yi Hsin; Chen, Pey Yu; TIEN-CHEN LIU; Wu, Che Ming
臺大學術典藏 2019-08-27T05:32:21Z HSD3B1 gene polymorphism and female pattern hair loss in women with polycystic ovary syndrome Tu, Yi-An;Sung-Jan Lin;Pei-Lung Chen;Chou, Chia-Hung;Huang, Chu-Chun;Hong-Nerng Ho;Mei-Jou Chen; Tu, Yi-An; SUNG-JAN LIN; PEI-LUNG CHEN; Chou, Chia-Hung; Huang, Chu-Chun; HONG-NERNG HO; MEI-JOU CHEN
臺大學術典藏 2019-08-27T05:29:52Z Distinctive genetic variation of long-segment Hirschsprung's disease in Taiwan Yang, Wendy;Chen, Szu-Chieh;Lai, Jin-Yao;Ming, Yung-Ching;Chen, Jeng-Chang;Pei-Lung Chen; Yang, Wendy; Chen, Szu-Chieh; Lai, Jin-Yao; Ming, Yung-Ching; Chen, Jeng-Chang; PEI-LUNG CHEN
臺大學術典藏 2019-08-27T04:20:05Z A 49-Year-Old Man with Combined Myasthenia Gravis, Autoimmune Thyroiditis and IgG4 Orbitopathy Shan-Han Chang;Yung-Xin Tsai;Ta-Fu Chen;Wan-Chen Wu;Pei-Lung Chen;Jin-Ying Lu; Shan-Han Chang; Yung-Xin Tsai; TA-FU CHEN; WAN-CHEN WU; PEI-LUNG CHEN; Jin-Ying Lu
臺大學術典藏 2019-08-27T04:13:16Z A stem-loop in the 3UTR of nos-2 is required for translational repression in oocytes Pei-Lung Chen; PEI-LUNG CHEN
臺大學術典藏 2019-08-27T04:12:41Z Translational control in the germ plasm: nos-2 RNA regulation Pei-Lung Chen; PEI-LUNG CHEN
臺大學術典藏 2019-08-27T04:11:26Z Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference Pei-Lung Chen; PEI-LUNG CHEN
臺大學術典藏 2019-08-27T04:10:47Z Tuberous sclerosis complex surveillance and management: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference Pei-Lung Chen; PEI-LUNG CHEN
臺大學術典藏 2019-08-27T03:30:42Z Neuregulin 3 Knockout Mice Exhibit Behaviors Consistent with Psychotic Disorders Hayes, Lindsay N;Shevelkin, Alexey;Zeledon, Mariela;Steel, Gary;Pei-Lung Chen;Obie, Cassandra;Pulver, Ann;Avramopoulos, Dimitrios;Valle, David;Sawa, Akira;Pletnikov, Mikhail V; Hayes, Lindsay N; Shevelkin, Alexey; Zeledon, Mariela; Steel, Gary; PEI-LUNG CHEN; Obie, Cassandra; Pulver, Ann; Avramopoulos, Dimitrios; Valle, David; Sawa, Akira; Pletnikov, Mikhail V

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