1 Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskines..
来源:NAT GENET( P 1061-4036 E ) 发表时间: 2011/12
类型:期刊论文 为本人加分:32368.243789
贡献度:共同通讯作者
2 Mutation analysis and the correlation between genotype and phenotype of Arg778Leu mutation in Chines..
来源:ARCH NEUROL-CHICAGO( P 0003-9942 E 1538-3687 ) 发表时间: 2001/06
类型:期刊论文 为本人加分:7713.499896
贡献度:单独第一作者;单独通讯作者
3 Genotype-phenotype correlations of amyotrophic lateral sclerosis
来源:TRANSL NEURODEGENER( P 2047-9158 E ) 发表时间: 2016/02
类型:期刊论文 为本人加分:7590.942942
4 MicroRNA miR-326 regulates T-H-17 differentiation and is associated with the pathogenesis of multipl..
来源:NAT IMMUNOL( P 1529-2908 E 1529-2916 ) 发表时间: 2009/12
类型:期刊论文 为本人加分:7256.025765
贡献度:参与作者
5 Spinocerebellar ataxia: relationship between phenotype and genotype - a review
来源:CLIN GENET( P 0009-9163 E 1399-0004 ) 发表时间: 2016/10
类型:期刊论文 为本人加分:6994.762944
贡献度:单独通讯作者
6 Spectrum and Classification of ATP7B Variants in a Large Cohort of Chinese Patients with Wilson'..
来源:THERANOSTICS( P 1838-7640 E ) 发表时间: 2016/01
类型:期刊论文 为本人加分:6190.063594
贡献度:单独通讯作者
7 Wilson's Disease in China
来源:NEUROSCI BULL( P 1673-7067 E 1995-8218 ) 发表时间: 2017/06
类型:期刊论文 为本人加分:6001.672935
8 Molecular analysis of 51 unrelated pedigrees with late-onset multiple acyl-CoA dehydrogenation defic..
来源:J MOL MED( P 0946-2716 E ) 发表时间: 2011/06
类型:期刊论文 为本人加分:5933.327522
贡献度:单独通讯作者
9 Advance in the pathogenesis and treatment of Wilson disease
来源:TRANSL NEURODEGENER( P 2047-9158 E ) 发表时间: 2012/01
类型:期刊论文 为本人加分:5874.942942
贡献度:单独通讯作者
10 Mutation analysis of 218 Chinese patients with Wilson disease revealed no correlation between the ca..
来源:J MOL MED( P 0946-2716 E 1432-1440 ) 发表时间: 2006/05
类型:期刊论文 为本人加分:4741.818267