第 1 到 8 筆結果,共 8 筆。
公開日期 | 標題 | 作者 | 來源出版物 | scopus | WOS | 全文 | |
---|---|---|---|---|---|---|---|
1 | 2022 | The diversity of hereditary neuromuscular diseases: Experiences from molecular diagnosis | HSUEH-WEN HSUEH ; WEN-CHIN WENG ; PI-CHUAN FAN ; YIN-HSIU CHIEN ; FENG-JUNG YANG ; WANG-TSO LEE ; Lin, Ru-Jen; WUH-LIANG HWU ; Chih-Chao Yang ; NI-CHUNG LEE | Journal of the Formosan Medical Association = Taiwan yi zhi | 1 | 1 | |
2 | 2020 | De novo mutation and skewed X-inactivation in girl with BCAP31-related syndrome | Kao H.-J.; Chiang H.-L.; Chen H.-H.; PI-CHUAN FAN ; Tu Y.-F.; Chou Y.-Y.; WUH-LIANG HWU ; Lin C.-L.; Kwok P.-Y.; NI-CHUNG LEE | Human Mutation | 2 | 2 | |
3 | 2019 | Reply to Lutz-Bonengel et al.: Biparental mtDNA transmission is unlikely to be the result of nuclear mitochondrial DNA segments | Luo S.; Alexander Valencia C.; Zhang J.; NI-CHUNG LEE ; Slone J.; Gui B.; Wang X.; Li Z.; Dell S.; Brown J.; Chen S.M.; YIN-HSIU CHIEN ; WUH-LIANG HWU ; PI-CHUAN FAN ; Wong L.-J.; Atwal P.S.; Huang T. | Proceedings of the National Academy of Sciences of the United States of America | 9 | 7 | |
4 | 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 | |
5 | 2018 | Biparental inheritance of mitochondrial DNA in humans | Luo S.; Valencia C.A.; Zhang J.; NI-CHUNG LEE ; Slone J.; Gui B.; Wang X.; Li Z.; Dell S.; Brown J.; Chen S.M.; YIN-HSIU CHIEN ; WUH-LIANG HWU ; PI-CHUAN FAN ; Wong L.-J.; Atwal P.S.; Huang T. | Proceedings of the National Academy of Sciences of the United States of America | 263 | 227 | |
6 | 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 | |
7 | 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 | |
8 | 2008 | Fibrous dysplasia in a child with mitochondrial A8344G mutation | Chen S.-T.; PI-CHUAN FAN ; WUH-LIANG HWU ; MEI-HWAN WU | Journal of Child Neurology | 7 | 6 |