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Yang Li

6PUBLICATIONS
2CO-AUTHORS
Ophthalmology and optometry not elsewhere classifiedAnthropological geneticsEpigenetics (incl. genome methylation and epigenomics)Cancer geneticsDevelopmental genetics (incl. sex determination)
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Journal

Publications (6)

Sort by Publication Date:
|Apr 19, 2023
Variants of BEST1 and CRYBB2 cause a complex ocular phenotype comprising microphthalmia, microcornea, cataract, and vitelliform macular dystrophy: case report.

Jie Shi, Tengyang Sun, Ke Xu

|Apr 08, 2023
Phenotypic diversity observed in a Chinese patient cohort with biallelic variants in Bardet-Biedl syndrome genes.

Junwei Zhong, Yue Xie, Hanwen Ye

|Jan 21, 2023
Phenotype-Based Genetic Analysis Reveals Missing Heritability of <i>KIF11</i>-Related Retinopathy: Clinical and Genetic Findings.

Haoyu Chang, Xin Zhang, Ke Xu

|Feb 08, 2022
Clinical and genetic findings in a Chinese cohort with choroideremia.

Yuning Song, Chunjie Chen, Yue Xie

|Nov 27, 2021
Clinical Features and Natural History in a Cohort of Chinese Patients with RPE65-Associated Inherited Retinal Dystrophy.

Jie Shi, Ke Xu, Jian-Ping Hu

|Oct 21, 2019
Genetic and clinical findings in a Chinese cohort with Leber congenital amaurosis and early onset severe retinal dystrophy.

Ke Xu, Yue Xie, Tengyang Sun

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Frequent Collaborators

1 joint publications

Nien Li

1 joint publications

Yue Xie

Frequent Collaborators

1 joint publications

Nien Li

1 joint publications

Yue Xie

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