公開日期 | 標題 | 作者 | 來源出版物 | scopus | WOS | 全文 |
2020 | Frequency and spectrum of actionable pathogenic secondary findings in Taiwanese exomes | Kuo C.-W.; WUH-LIANG HWU ; YIN-HSIU CHIEN ; Hsu C.; Hung M.-Z.; Lin I.-L.; FEI-PEI LAI ; NI-CHUNG LEE | Molecular Genetics and Genomic Medicine | 9 | 9 | |
2018 | Functional independence of Taiwanese children with Prader–Willi syndrome | Lee C.-L.; Lin H.-Y.; Tsai L.-P.; Chiu H.-C.; Tu R.-Y.; Huang Y.-H.; YIN-HSIU CHIEN ; NI-CHUNG LEE ; Niu D.-M.; Chao M.-C.; Tsai F.-J.; Chou Y.-Y.; Chuang C.-K.; Lin S.-P. | American Journal of Medical Genetics, Part A | 1 | 2 | |
2024 | Gene therapy corrects the neurological deficits of mice with sialidosis | WUH-LIANG HWU ; Chang, Karine; Liu, Yu-Han; Wang, Hao-Chun; NI-CHUNG LEE ; YIN-HSIU CHIEN | Gene therapy | | | |
2012 | Gene therapy for aromatic L-amino acid decarboxylase deficiency | WUH-LIANG HWU ; Muramatsu S.-I.; SHENG-HONG TSENG ; KAI-YUAN TZEN ; NI-CHUNG LEE ; YIN-HSIU CHIEN ; Snyder R.O.; Byrne B.J.; CHUN-HWEI TAI ; RUEY-MEEI WU | Science Translational Medicine | 188 | 170 | |
2019 | Gene therapy improves brain white matter in aromatic l-amino acid decarboxylase deficiency | Tseng C.-H.; YIN-HSIU CHIEN ; NI-CHUNG LEE ; Hsu Y.-C.; STEVEN SHINN-FORNG PENG ; WEN-YIH TSENG ; WUH-LIANG HWU | Annals of Neurology | 20 | 18 | |
2017 | Gene therapy with modified U1 small nuclear RNA | WUH-LIANG HWU ; Lee Y.-M.; NI-CHUNG LEE | Expert Review of Endocrinology and Metabolism | 3 | 0 | |
2023 | Genetic analysis of IMPDH2 gene in Taiwanese patients with isolated or combined dystonia | Chen, Pin-Shiuan; MENG-CHEN WU ; CHUN-HWEI TAI ; Chang, Yung-Yee; Lan, Min-Yu; Chen, Ying-Fa; Lin, Han-I; NI-CHUNG LEE ; CHIN-HSIEN LIN | Parkinsonism & related disorders | 1 | 1 | |
2010 | Genetic heterozygosity and pseudodeficiency in the Pompe disease newborn screening pilot program | Labrousse P.; YIN-HSIU CHIEN ; Pomponio R.J.; Keutzer J.; NI-CHUNG LEE ; Akmaev V.R.; Scholl T.; WUH-LIANG HWU | Molecular Genetics and Metabolism | 92 | 79 | |
2019 | Genotypic and phenotypic correlations of biotinidase deficiency in the Chinese population | Hsu R.-H.; YIN-HSIU CHIEN ; WUH-LIANG HWU ; Chang I.-F.; Ho H.-C.; Chou S.-P.; Huang T.-M.; NI-CHUNG LEE | Orphanet Journal of Rare Diseases | 16 | 14 | |
2009 | Glycogen Storage Disease Type Ib: The First Case in Taiwan | Hsiao H.-J.; HSIU-HAO CHANG ; WUH-LIANG HWU ; Lam C.-W.; NI-CHUNG LEE ; YIN-HSIU CHIEN | Pediatrics and Neonatology | 4 | 3 | |
2022 | Harnessing polyhydroxylated pyrrolidines as a stabilizer of acid alpha-glucosidase (GAA) to enhance the efficacy of enzyme replacement therapy in Pompe disease | Li, Huang-Yi; NI-CHUNG LEE ; Chiu, Yu-Ting; Chang, Yu-Wen; Lin, Chu-Chung; Chou, Cheng-Li; YIN-HSIU CHIEN ; WUH-LIANG HWU ; Cheng, Wei-Chieh | Bioorganic & medicinal chemistry | 2 | 0 | |
2019 | Heterogeneous nonataxic phenotypes of spinocerebellar ataxia in a Taiwanese population | Chen S.-J.; NI-CHUNG LEE ; YIN-HSIU CHIEN ; WUH-LIANG HWU ; CHIN-HSIEN LIN | Brain and Behavior | 10 | 7 | |
2022 | High incidence of null variants identified from newborn screening of X-linked adrenoleukodystrophy in Taiwan | HUI-AN CHEN ; Hsu, Rai-Hseng; Chen, Pin-Wen; NI-CHUNG LEE ; Chiu P.-C.; WUH-LIANG HWU ; YIN-HSIU CHIEN | Molecular Genetics and Metabolism Reports | 7 | 4 | |
2016 | Histopathological and genetic analysis of extraocular muscle in chronic progressive external ophthalmoplegia | Hsiao C.-C.; NI-CHUNG LEE ; PEI-HSIN HUANG ; Tsai T.-H. | Journal of the Formosan Medical Association | 4 | 4 | |
2009 | Identification of CpG methylation of the SNRPN gene by methylation-specific multiplex PCR | Hung C.-C.; SHIN-YU LIN ; Lin S.-P.; Niu D.-M.; NI-CHUNG LEE ; WEN-FANG CHENG ; Chen C.-P.; Lin, Win-Li ; CHIEN-NAN LEE ; Su Y.-N. | Electrophoresis | 5 | 6 | |
2022 | Impact of genetic tests on survivors of paediatric sudden cardiac arrest | SHUENN-NAN CHIU ; JYH-MING JIMMY JUANG ; WEI-CHIEH TSENG ; Chen, Wen-Pin; NI-CHUNG LEE ; MEI-HWAN WU | Archives of Disease in Childhood | 0 | 0 | |
2022 | Improved diagnosis of citrin deficiency by newborn screening using a molecular second-tier test | HUI-AN CHEN ; Hsu R.-H.; Chen Y.-H.; Hsu L.-W.; Chiang S.-C.; NI-CHUNG LEE ; WUH-LIANG HWU ; Chiu P.-C.; YIN-HSIU CHIEN | Molecular Genetics and Metabolism | 8 | 5 | |
2022 | The incorporation of next-generation sequencing into pediatric care | NI-CHUNG LEE | Pediatrics and neonatology | 1 | 1 | |
2016 | Integrated care for Down syndrome | NI-CHUNG LEE ; YIN-HSIU CHIEN ; WUH-LIANG HWU | Congenital Anomalies | 1 | 1 | |
2005 | Intrafamilial phenotype variation in Marfan syndrome ascertained by intragenic linkage analysis. | NI-CHUNG LEE ; Hwang B.; Chen C.H.; Niu D.M. | Journal of the Formosan Medical Association = Taiwan yi zhi | 3 | 3 | |