公開日期 | 標題 | 作者 | 來源出版物 | scopus | WOS | 全文 |
2023 | The MAPT p.P301L mutation presents as a rare early-onset corticobasal syndrome: A case report | Li, Cheng-Hsuan; NI-CHUNG LEE ; Lin, Kun-Ju; Hsiao, Ing-Tsung; Weng, Yi-Hsin; CHIN-HSIEN LIN | NEUROLOGY ASIA | 0 | 0 | |
2016 | Measuring propionyl-CoA carboxylase activity in phytohemagglutinin stimulated lymphocytes using high performance liquid chromatography | Liu Y.-N.; Liu T.-T.; Fan Y.-L.; Niu D.-M.; YIN-HSIU CHIEN ; Chou Y.-Y.; NI-CHUNG LEE ; Hsiao K.-J.; Chiu Y.-H. | Clinica Chimica Acta | 4 | 4 | |
2003 | Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome: Report of One Case | NI-CHUNG LEE ; Tiu C.-M.; Soong W.-J.; Tsen C.-L.; Hwang B.-T.; Wei C.-F. | Acta Paediatrica Taiwanica | 2 | 0 | |
2019 | Methylmalonic acidemia/propionic acidemia - The biochemical presentation and comparing the outcome between liver transplantation versus non-liver transplantation groups | Chu T.-H.; YIN-HSIU CHIEN ; Lin H.-Y.; Liao H.-C.; Ho H.-J.; Lai C.-J.; Chiang C.-C.; Lin N.-C.; Yang C.-F.; WUH-LIANG HWU ; NI-CHUNG LEE ; Lin S.-P.; Liu C.-S.; REY-HENG HU ; MING-CHIH HO ; Niu D.-M. | Orphanet Journal of Rare Diseases | 24 | 21 | |
2022 | A missense variant in the nuclear localization signal of DKC1 causes Hoyeraal-Hreidarsson syndrome | Chu, Chia-Mei; HSIN-HUI YU ; Kao, Tsai-Ling; Chen, Yi-Hsuan; Lu, Hsuan-Hsuan; EN-TING WU ; Yang, Yun-Li; CHIN-HSIEN LIN ; SHIN-YU LIN ; Tsai, Meng-Ju Melody; YIN-HSIU CHIEN ; WUH-LIANG HWU ; WEN-PIN CHEN ; NI-CHUNG LEE ; CHI-KANG TSENG | NPJ genomic medicine | 2 | 2 | |
2013 | Mitochondrial depletion causes neonatal-onset leigh syndrome, myopathy, and renal tubulopathy | Lee I.-C.; NI-CHUNG LEE ; Lu J.-J.; Su P.-H. | Journal of Child Neurology | 8 | 6 | |
2011 | Mitochondrial DNA polymerase γ mutations: An ever expanding molecular and clinical spectrum | Tang S.; Wang J.; NI-CHUNG LEE ; Milone M.; Halberg M.C.; Schmitt E.S.; Craigen W.J.; Zhang W.; Wong L.-J.C. | Journal of Medical Genetics | 131 | 122 | |
2020 | Mitochondrial UQCRC1 mutations cause autosomal dominant parkinsonism with polyneuropathy | CHIN-HSIEN LIN ; Tsai, Pei-I; Lin, Han-Yi; Hattori, Nobutaka; Funayama, Manabu; Jeon, Beomseok; Sato, Kota; Abe, Koji; Mukai, Yohei; Takahashi, Yuji; Li, Yuanzhe; Nishioka, Kenya; Yoshino, Hiroyo; Daida, Kensuke; Chen, Meng-Ling; Cheng, Jay; Huang, Cheng-Yen; SHIOU-RU TZENG ; Wu, Yen-Sheng; Lai, Hsing-Jung; Tsai, Hsin-Hsi; RUOH-FANG YEN ; NI-CHUNG LEE ; Lo, Wen-Chun; Hung, Yu-Chien; CHIH-CHIANG CHAN ; Ke, Yi-Ci; CHI-CHAO CHAO ; SUNG-TSANG HSIEH ; Farrer, Matthew; RUEY-MEEI WU | Brain : a journal of neurology | 29 | 32 | |
2015 | Mortality, disability, and intensive care in patients with mitochondrial 3243A>G mutation | Hsiue H.-C.; NI-CHUNG LEE ; Tsai H.-B.; Yang C.-C.; Wu C.-S.; WANG-TSO LEE ; WEN-CHIN WENG ; PI-CHUAN FAN ; YIN-HSIU CHIEN ; WUH-LIANG HWU ; Hung K.-L.; Huang C.-C.; Chen C.-H.; Lin S.-J.; Chu S.-Y.; Wang T.-J.; Lu C.-J.; PEI-LIN LEE | Intensive Care Medicine | 1 | 1 | |
2019 | Mosaic paternal haploidy in a patient with pancreatoblastoma and Beckwith–Wiedemann spectrum | CHENG-TING LEE ; YI-CHING TUNG ; WUH-LIANG HWU ; JIN-CHUNG SHIH ; WEN-HSI LIN ; MU-ZON WU ; KUAN-TING KUO ; YUNG-LI YANG ; HUEY-LING CHEN ; Chen M.; Su Y.-N.; Jong Y.-J.; SHIH-YAO LIU ; Tsai W.-Y.; NI-CHUNG LEE | American Journal of Medical Genetics, Part A | 5 | 5 | |
2015 | Moyamoya disease in two patients with Noonan-like syndrome with loose anagen hair | Lo F.-S.; Wang C.-J.; Wong M.-C.; NI-CHUNG LEE | American Journal of Medical Genetics, Part A | 19 | 16 | |
2008 | Mutation of Mitochondrial DNA G13513A Presenting with Leigh Syndrome, Wolff-Parkinson-White Syndrome and Cardiomyopathy | Wang S.-B.; WEN-CHIN WENG ; NI-CHUNG LEE ; WUH-LIANG HWU ; PI-CHUAN FAN ; WANG-TSO LEE | Pediatrics and Neonatology | 49 | 0 | |
2016 | Mutation-adapted U1 snRNA corrects a splicing error of the dopa decarboxylase gene | NI-CHUNG LEE ; Lee Y.-M.; Chen P.-W.; Byrne B.J.; WUH-LIANG HWU | Human Molecular Genetics | 18 | 16 | |
2019 | Mycobacterium abscessus infection in a boy with X-linked anhidrotic ectodermal dysplasia, immunodeficiency | HSIN-HUI YU ; Hu T.-C.; NI-CHUNG LEE ; YIN-HSIU CHIEN ; YAO-HSU YANG ; WUH-LIANG HWU ; BOR-LUEN CHIANG | Journal of Microbiology, Immunology and Infection | 5 | 4 | |
2018 | Natural history of aromatic L-amino acid decarboxylase deficiency in Taiwan | WUH-LIANG HWU ; YIN-HSIU CHIEN ; NI-CHUNG LEE ; Li M.-H. | JIMD Reports | 30 | 31 | |
2021 | NAXE gene mutation-related progressive encephalopathy: A case report and literature review | Chiu, Li-Wei; Lin, Sheng-Shing; Chen, Chieh-Ho; Lin, Chien-Heng; NI-CHUNG LEE ; Hong, Syuan-Yu; Chou, I-Ching; Lin, Chien-Lin; Yang, Pei-Yu | Medicine | 5 | 4 | |
2004 | Neonatal bacteremia in a neonatal intensive care unit: Analysis of causative organisms and antimicrobial susceptibility | NI-CHUNG LEE ; Chen S.-J.; Tang R.-B.; Hwang B.-T. | Journal of the Chinese Medical Association | 22 | 0 | |
2018 | A Neuron-Specific Gene Therapy Relieves Motor Deficits in Pompe Disease Mice | NI-CHUNG LEE ; WUH-LIANG HWU ; Muramatsu S.-I.; Falk D.J.; Byrne B.J.; Cheng C.-H.; Shih N.-C.; Chang K.-L.; LI-KAI TSAI ; YIN-HSIU CHIEN | Molecular Neurobiology | 24 | 27 | |
2013 | Newborn screening for citrin deficiency and carnitine uptake defect using second-tier molecular tests | Wang L.-Y.; Chen N.-I.; Chen P.-W.; Chiang S.-C.; WUH-LIANG HWU ; NI-CHUNG LEE ; YIN-HSIU CHIEN | BMC Medical Genetics | 26 | 24 | |
2009 | Newborn screening for fabry disease in taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A) | WUH-LIANG HWU ; YIN-HSIU CHIEN ; NI-CHUNG LEE ; Chiang S.-C.; Dobrovolny R.; Huang A.-C.; Yeh H.-Y.; Chao M.-C.; Lin S.-J.; Kitagawa T.; Desnick R.J.; Hsu L.-W. | Human Mutation | 287 | 257 | |