Zi-li Li

发表

Distinct mutations with different inheritance mode caused similar retinal dystrophies in one family: a demonstration of the importance of genetic annotations in complicated pedigrees

B. Yan, Xue Chen, Chao Jiang, 2018, Journal of Translational Medicine.

GUCA1A mutation causes maculopathy in a five-generation family with a wide spectrum of severity

B. Yan, Wenjuan Zhuang, Qingshun Zhao, 2017, Genetics in Medicine.

Distinct mutations with different inheritance mode caused similar retinal dystrophies in one family: a demonstration of the importance of genetic annotations in complicated pedigrees

B. Yan, Xue Chen, Chao Jiang, 2018, Journal of Translational Medicine.

A novel mutation in retinitis pigmentosa GTPase regulator gene with a distinctive retinitis pigmentosa phenotype in a Chinese family

Wenjuan Zhuang, X. Sheng, Zi-li Li, 2010, Molecular vision.

Association of insulin-like growth factor-1 polymorphisms with high myopia in the Chinese population

W. Xiang, Peizeng Yang, Jing-jing Zhao, 2012, Molecular vision.

Association of Specific Genetic Polymorphisms with Age-related Macular Degeneration in a Northern Chinese Population

W. Xiang, Ying Han, Jing-jing Zhao, 2014, Ophthalmic genetics.

FGFR2 mutation in a Chinese family with unusual Crouzon syndrome.

Wenjuan Zhuang, Wei Zhao, Xue Chen, 2016, International journal of ophthalmology.

Targeted Next-generation Sequencing Reveals Novel EYS Mutations in Chinese Families with Autosomal Recessive Retinitis Pigmentosa

Chen Zhao, Kanxing Zhao, Xue Chen, 2015, Scientific Reports.

Next-generation Sequencing Extends the Phenotypic Spectrum for LCA5 Mutations: Novel LCA5 Mutations in Cone Dystrophy

Chen Zhao, Xue Chen, Chao Jiang, 2016, Scientific Reports.