公開日期 | 標題 | 作者 | 來源出版物 | scopus | WOS | 全文 |
---|---|---|---|---|---|---|
2003 | Hereditary sensory neuropathy is caused by a mutation in the delta subunit of the cytosolic chaperonin-containing t-complex peptide-1 (Cct4) gene | MING-JEN LEE ; Stephenson D.A.; Groves M.J.; Sweeney M.G.; Davis M.B.; An S.-F.; Houlden H.; Salih M.A.M.; Timmerman V.; de Jonghe P.; Auer-Grumbach M.; Di Maria E.; Scaravilli F.; Wood N.W.; Reilly M.M. | Human Molecular Genetics | 46 | 45 | |
2008 | HMBS mutations in chinese patients with acute intermittent porphyria | Yang C.-C.; Kuo H.-C.; You H.-L.; Wang J.; Huang C.-C.; Liu C.-Y.; Lan M.-Y.; Stephenson D.A.; MING-JEN LEE | Annals of Human Genetics | 20 | 17 | |
2006 | Identification of forty-five novel and twenty-three known NF1 mutations in Chinese patients with neurofibromatosis type 1. | MING-JEN LEE ; Su Y.N.; You H.L.; Chiou S.C.; Lin L.C.; Yang C.C.; Lee W.C.; WUH-LIANG HWU ; FON-JOU HSIEH ; Stephenson D.A.; CHIA-LI YU | Human mutation | 31 | 27 | |
2008 | Mutations of the SPG11 gene in patients with autosomal recessive spastic paraparesis and thin corpus callosum | MING-JEN LEE ; Cheng T.-W.; Hua M.-S.; MING-KAI PAN ; Wang J.; Stephenson D.A.; Yang C.-C. | Journal of Neurology, Neurosurgery and Psychiatry | 18 | 17 | |
2013 | Overweight modulates APOE and APOA5 alleles on the risk of severe hypertriglyceridemia | MING-JEN LEE ; KUO-LIONG CHIEN ; MING-FONG CHEN ; Stephenson D.A.; TA-CHEN SU | Clinica Chimica Acta | 17 | 14 | |
2007 | Recent developments in neurofibromatosis type 1 | MING-JEN LEE ; Stephenson D.A. | Current Opinion in Neurology | 87 | 73 |