公開日期 | 標題 | 作者 | 來源出版物 | scopus | WOS | 全文 |
2010 | Complex rearrangements between chromosomes 6, 10, and 11 with multiple deletions at breakpoints | NI-CHUNG LEE ; Chen M.; Ma G.-C.; Lee D.-J.; Wang T.-J.; Ke Y.-Y.; YIN-HSIU CHIEN ; WUH-LIANG HWU | American Journal of Medical Genetics, Part A | 16 | 15 | |
2020 | Composite Scores of Plasma Tau and β-Amyloids Correlate with Dementia in down Syndrome | Fang W.-Q.; WUH-LIANG HWU ; YIN-HSIU CHIEN ; Yang S.-Y.; Chieh J.-J.; Chang L.-M.; Huang A.-C.; NI-CHUNG LEE ; MING-JANG CHIU | ACS Chemical Neuroscience | 4 | 4 | |
2011 | Computational analysis of a novel mutation in ETFDH gene highlights its long-range effects on the FAD-binding motif | Er T.-K.; Chen C.-C.; Liu Y.-Y.; Chang H.-C.; YIN-HSIU CHIEN ; Chang J.-G.; Hwang J.-K.; Jong Y.-J. | BMC Structural Biology | 30 | 28 | |
2019 | Congenital generalized lipodystrophy in Taiwan | Hsu R.-H.; Lin W.-D.; Chao M.-C.; Hsiao H.-P.; Wong S.-L.; Chiu P.-C.; Chu S.-Y.; Ke Y.-Y.; Lau B.-H.; YIN-HSIU CHIEN ; WUH-LIANG HWU ; Tsai F.-J.; Wang C.-H.; NI-CHUNG LEE | Journal of the Formosan Medical Association | 11 | 8 | |
2011 | Congenital hypopituitarism due to POU1F1 gene mutation | NI-CHUNG LEE ; Tsai W.-Y.; STEVEN SHINN-FORNG PENG ; YI-CHING TUNG ; YIN-HSIU CHIEN ; WUH-LIANG HWU | Journal of the Formosan Medical Association | 7 | 6 | |
2000 | Congenital intracranial teratoma | YIN-HSIU CHIEN ; PO-NIEN TSAO ; WANG-TSO LEE ; STEVEN SHINN-FORNG PENG ; Tsou Yau K.-I. | Pediatric Neurology | 44 | 35 | |
2015 | Congenital malformations in newborns - A challenge unmet for decades | NI-CHUNG LEE ; YIN-HSIU CHIEN ; WUH-LIANG HWU | Pediatrics and Neonatology | 1 | 1 | |
2017 | Consensus recommendations for the diagnosis, treatment and follow-up of inherited methylation disorders | Bari? I.; Staufner C.; Augoustides-Savvopoulou P.; YIN-HSIU CHIEN ; Dobbelaere D.; Gr?nert S.C.; Opladen T.; Petkovi? Ramad?a D.; Raki? B.; Wedell A.; Blom H.J. | Journal of Inherited Metabolic Disease | 42 | 36 | |
2023 | Consensus recommendations for the treatment and management of patients with Fabry disease on migalastat: a modified Delphi study | Bichet, Daniel G; Hopkin, Robert J; Aguiar, Patrício; Allam, Sridhar R; YIN-HSIU CHIEN ; Giugliani, Roberto; Kallish, Staci; Kineen, Sabina; Lidove, Olivier; Niu, Dau-Ming; Olivotto, Iacopo; Politei, Juan; Rakoski, Paul; Torra, Roser; Tøndel, Camilla; Hughes, Derralynn A | Frontiers in medicine | 2 | 1 | |
2023 | Corneal Biomechanical Characteristics in Osteogenesis Imperfecta With Collagen Defect | Chou, Chien-Chih; PO-JEN SHIH ; TZUU-SHUH JOU ; Hsu, Min-Yen; Chen, Jun-Peng; Hsu, Rai-Hseng; NI-CHUNG LEE ; YIN-HSIU CHIEN ; WUH-LIANG HWU ; I-JONG WANG | Translational vision science & technology | 3 | 1 | |
2018 | Correction to: Impact of age at onset and newborn screening on outcome in organic acidurias (Journal of Inherited Metabolic Disease, (2016), 39, 3, (341-353), 10.1007/s10545-015-9907-8) | Heringer J.; Valayannopoulos V.; Lund A.M.; Wijburg F.A.; Freisinger P.; Bari? I.; Baumgartner M.R.; Burgard P.; Burlina A.B.; Chapman K.A.; i Saladelafont E.C.; Karall D.; M?hlhausen C.; Riches V.; Schiff M.; Sykut-Cegielska J.; Walter J.H.; Zeman J.; Chabrol B.; K?lker S.; Aksglaede L.; Avram P.; Balmaseda-Serrano E.; Bauchart E.; Blasco-Alonso J.; Brassier A.; Chakrapani A.; YIN-HSIU CHIEN ; Couce M.L.; de Laet C.; de Lonlay P.; de Meirleir L.; Dionisi-Vici C.; Dobbelaere D.; Garcia-Cazorla A.; Gleich F.; Gradowska W.; Gr?newald S.; Haege G.; H?berle J.; WUH-LIANG HWU ; Ioannou H.; Lachmann R.; Langereis E.; Teles E.L.; L?pez-Laso E.; Matsumoto S.; de Baulny H.O.; Ortez C.; Pe?a-Quintana L.; Ruiz-Gomez A.; Sarajlija A.; Summar M.L.; Thompson N.; Vara R.; Pinera I.V.; Williams M.; Zielonka M.; Additional individual contributors of the E-IMD consortium | Journal of Inherited Metabolic Disease | 2 | 0 | |
2023 | Corrigendum to: Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes | Himmelreich, Nastassja; Bertoldi, Mariarita; Alfadhel, Majid; Alghamdi, Malak Ali; Anikster, Yair; Bao, Xinhua; Bashiri, Fahad A; Zeev, Bruria Ben; Bisello, Giovanni; Ceylan, Ahmet Cevdet; YIN-HSIU CHIEN ; Choy, Yew Sing; Elsea, Sarah H; Flint, Lisa; García-Cazorla, Àngels; Gijavanekar, Charul; Gümüş, Emel Yılmaz; Hamad, Muddathir H; Hişmi, Burcu; Honzik, Tomas; Kuseyri Hübschmann, Oya; Hwu, Wuh-Liang; Ibáñez-Micó, Salvador; Jeltsch, Kathrin; Juliá-Palacios, Natalia; Kasapkara, Çiğdem Seher; Kurian, Manju A; Kusmierska, Katarzyna; Liu, Ning; Ngu, Lock Hock; Odom, John D; Ong, Winnie Peitee; Opladen, Thomas; Oppeboen, Mari; Pearl, Phillip L; Pérez, Belén; Pons, Roser; Rygiel, Agnieszka Magdalena; Shien, Tan Ee; Spaull, Robert; Sykut-Cegielska, Jolanta; Tabarki, Brahim; Tangeraas, Trine; Thöny, Beat; Wassenberg, Tessa; Wen, Yongxin; Yakob, Yusnita; Yin, Jasmine Goh Chew; Zeman, Jiri; Blau, Nenad | Molecular genetics and metabolism | 3 | 1 | |
2002 | Cranial MR spectroscopy of tetrahydrobiopterin deficiency | YIN-HSIU CHIEN ; STEVEN SHINN-FORNG PENG ; Wang T.-R.; WUH-LIANG HWU | American Journal of Neuroradiology | 11 | 9 | |
2019 | Critical Trio Exome Benefits In-Time Decision-Making for Pediatric Patients with Severe Illnesses? | EN-TING WU ; WUH-LIANG HWU ; YIN-HSIU CHIEN ; Hsu, Ching; Chen, Ting-Fu; Chen, Nai-Qi; HUNG-CHIEH CHOU ; PO-NIEN TSAO ; PI-CHUAN FAN ; I-JUNG TSAI ; Lin, Shuan-Pei; Hsieh, Wu-Shiun; Chang, Tung-Ming; CHI-NIEN CHEN ; Lee, Chen-Hao; Chou, Yen-Yin; Chiu, Pao-Chin; Tsai, Wen-Hui; Hsiung, Hann-Chang; FEI-PEI LAI ; NI-CHUNG LEE | Pediatric Critical Care Medicine | 27 | 23 | |
2021 | CTLA-4 gene mutation and multiple sclerosis: A case report and literature review | Lin, Ting-Wei; YA-CHIAO HU ; YAO-HSU YANG ; YIN-HSIU CHIEN ; NI-CHUNG LEE ; HSIN-HUI YU ; BOR-LUEN CHIANG ; LI-CHIEH WANG | Journal of microbiology, immunology, and infection = Wei mian yu gan ran za zhi | 3 | 3 | |
2023 | Curated incidence of lysosomal storage diseases from the Taiwan Biobank | Tsai, Meng-Ju Melody; Hung, Miao-Zi; Lin, Yi-Lin; NI-CHUNG LEE ; YIN-HSIU CHIEN ; WUH-LIANG HWU | NPJ genomic medicine | 0 | 0 | |
2014 | Cyclic pamidronate infusion for neonatal-onset Osteogenesis imperfecta | Lin C.-H.; YIN-HSIU CHIEN ; STEVEN SHINN-FORNG PENG ; Tsai W.-Y.; YI-CHING TUNG ; CHENG-TING LEE ; Chien C.-C.; WUH-LIANG HWU ; NI-CHUNG LEE | Pediatrics and Neonatology | 9 | 8 | |
2021 | Cystathionine ß-synthase deficiency in the E-HOD registry-part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis | Ko?ich V.; Sokolov? J.; Morris A.A.M.; Pavl?kov? M.; Gleich F.; K?lker S.; Krijt J.; Dionisi-Vici C.; Baumgartner M.R.; Blom H.J.; Huemer M.; Ald?miz-Echevarr?a L.; Arantes R.R.; Arrieta F.; Blasco-Alonso J.; Brouwers M.; Brunner-Krainz M.; Bueno M.; Pel?ez R.B.; Cano A.; Couce M.-L.; Crushell E.; Ficicioglu C.; Forny P.; Garc?a Jim?nez M.C.; Gaspar A.; Gonz?lez-Lamu?o Leguina D.; Chapman K.A.; YIN-HSIU CHIEN ; Janssen M.C.H.; Je?ina P.; Lachmann R.; Lavigne C.; Lund A.M.; L?sebrink N.; Maillot F.; Martins A.M.; Olivas S.M.; Mention K.; Mochel F.; Monavari A.; Moreira S.; Moreno C.A.; Muacevic-Katanec D.; Mundy H.; Murphy E.; Olivieri G.; Paquay S.; Pedr?n-Giner C.; Quintana L.P.; Porras-Hurtado G.L.; Fraile P.Q.; Redonnet-Vernhet I.; Rennings A.J.M.; Pons M.R.; Santra S.; Servais A.; Schiaffino M.C.; Schiff M.; Schwahn B.C.; Schwartz I.V.D.; Sremba L.J.; Stainforth C.; Stepien K.M.; Sykut-Cegielska J.; Terry A.; Tran C.; Mi?ana I.V.; Vives-Pi?era I.; Williams M.; Zeman J.; Zielonka M.; E-HOD consortium | Journal of Inherited Metabolic Disease | 18 | 12 | |
2009 | Cystathionine γ-lyase: Clinical, metabolic, genetic, and structural studies | Kraus J.P.; Ha?ek J.; Ko?ich V.; Collard R.; Venezia S.; Jano??kov? B.; Wang J.; Stabler S.P.; Allen R.H.; Jakobs C.; Finn C.T.; YIN-HSIU CHIEN ; WUH-LIANG HWU ; Hegele R.A.; Mudd S.H. | Molecular Genetics and Metabolism | 52 | 40 | |
2007 | Deconstructing pompe disease by analyzing single muscle fibers: To see a world in a grain of sand... | Raben N.; Takikita S.; Pittis M.G.; Bembi B.; Marie S.K.N.; Roberts A.; Page L.; Kishnani P.S.; Schoser B.G.H.; YIN-HSIU CHIEN ; Ralston E.; Nagaraju K.; Plotz P.H. | Autophagy | 99 | 98 | |