第 1 到 5 筆結果,共 5 筆。
公開日期 | 標題 | 作者 | 來源出版物 | scopus | WOS | 全文 | |
---|---|---|---|---|---|---|---|
1 | 2023 | Phenotypic Heterogeneity in Patients with Mutations in the Mitochondrial Complex I Assembly Gene NDUFAF5 | Chen, Pin-Shiuan; NI-CHUNG LEE ; Sung, Chieh-Ju; YA-WEN LIU ; WEN-CHIN WENG ; PI-CHUAN FAN ; WANG-TSO LEE ; YIN-HSIU CHIEN ; Wu, Chao-Szu; Sung, Yueh-Feng; Tsai, Ming-Chen; Lee, Yi-Chung; HSUEH-WEN HSUEH ; Fan, Sabrina Mai-Yi; MENG-CHEN WU ; Li, Hsun; Chen, Huan-Yun; Lin, Han-I; Ou-Yang, Chih-Hsin; Hwuh, Wuh-Liang; CHIN-HSIEN LIN | Movement disorders : official journal of the Movement Disorder Society | 3 | 0 | |
2 | 2023 | Clinical Characteristics, Genetic Features, and Long-Term Outcome of Wilson's Disease in a Taiwanese Population: An 11-Year Follow-Up Study | Fan, Sung-Pin; Kuo, Yih-Chih; NI-CHUNG LEE ; YIN-HSIU CHIEN ; WUH-LIANG HWU ; Huang, Yu-Hsuan; Lin, Han-I; TAI-CHUNG TSENG ; TUNG-HUNG SU ; SHIOU-RU TZENG ; Hsu, Chien-Ting; HUEY-LING CHEN ; CHIN-HSIEN LIN ; YEN-HSUAN NI | Journal of Movement Disorders | 2 | ||
3 | 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 | |
4 | 2020 | Clinical, radiological, and genetic characteristics in patients with Huntington's disease in a Taiwanese cohort | Chen, Szu-Ju; BO-CHING LEE ; NI-CHUNG LEE ; YIN-HSIU CHIEN ; WUH-LIANG HWU ; CHIN-HSIEN LIN | American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics | 0 | 0 | |
5 | 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 |