46,XX Testicular Disorders of Sex Development With DMD Gene Mutation: First Case Report Identified Prenatally by Integrated Analyses in China

por Deng, Jianlian, Zhang, Haoqing, Li, Caiyun, Huang, Hui, Liu, Saijun, Yang, Huanming, Xie, Kaili, Wang, Qiong, Lei, Dongzhu, Wu, Jing
Publicado 2020

Molecular Subtyping and Prognostic Assessment Based on Tumor Mutation Burden in Patients with Lung Adenocarcinomas

por Wang, Changzheng, Liang, Han, Lin, Cong, Li, Fuqiang, Xie, Guoyun, Qiao, Sitan, Shi, Xulian, Deng, Jianlian, Zhao, Xin, Wu, Kui, Zhang, Xiuqing
Publicado 2019

Novel mutations c.28G>T (p.Ala10Ser) and c.189G>T (p.Glu63Asp) in WDR62 associated with early onset acanthosis and hyperkeratosis in a patient with autosomal recessive microcephaly...

por Banerjee, Santasree, Chen, Huishuang, Huang, Hui, Wu, Jing, Yang, Zhiyun, Deng, Weiping, Chen, Dongna, Deng, Jianlian, Su, Yan, Li, Yang, Wu, Chao, Wang, Ye, Zeng, Hao, Wang, Yiming, Li, Xunhua
Publicado 2016

Targeted next generation sequencing identified novel mutations in RPGRIP1 associated with both retinitis pigmentosa and Leber’s congenital amaurosis in unrelated Chinese patients

por Huang, Hui, Wang, Ying, Chen, Huishuang, Chen, Yanhua, Wu, Jing, Chiang, Pei-Wen, Fan, Ning, Su, Yan, Deng, Jianlian, Chen, Dongna, Li, Yang, Zhang, Xinxin, Zhang, Mengxin, Liang, Shengran, Banerjee, Santasree, Qi, Ming, Liu, Xuyang
Publicado 2017

Systematic evaluation of a targeted gene capture sequencing panel for molecular diagnosis of retinitis pigmentosa

por Huang, Hui, Chen, Yanhua, Chen, Huishuang, Ma, Yuanyuan, Chiang, Pei-Wen, Zhong, Jing, Liu, Xuyang, Asan, Wu, Jing, Su, Yan, Li, Xin, Deng, Jianlian, Huang, Yingping, Zhang, Xinxin, Li, Yang, Fan, Ning, Wang, Ying, Tang, Lihui, Shen, Jinting, Chen, Meiyan, Zhang, Xiuqing, Te, Deng, Banerjee, Santasree, Liu, Hui, Qi, Ming, Yi, Xin
Publicado 2018