Enrichment of Minor Alleles of Common SNPs and Improved Risk Prediction for Parkinson's Disease

por Zhu, Zuobin, Yuan, Dejian, Luo, Denghui, Lu, Xitong, Huang, Shi
Publicado 2015

Accumulation of minor alleles and risk prediction in schizophrenia

por He, Pei, Lei, Xiaoyun, Yuan, Dejian, Zhu, Zuobin, Huang, Shi
Publicado 2017

Prenatal diagnosis of paternal uniparental disomy for chromosome 2 in two fetuses with intrauterine growth restriction

por Tan, Xuemei, Liu, Bailing, Yan, Tizhen, Wei, Xiaobao, Qin, Yanfeng, Zeng, Dingyuan, Yuan, Dejian
Publicado 2023

The value of single-molecule real-time technology in the diagnosis of rare thalassemia variants and analysis of phenotype–genotype correlation

por Luo, Shiqiang, Chen, Xingyuan, Zeng, Dingyuan, Tang, Ning, Yuan, Dejian, Zhong, Qingyan, Mao, Aiping, Xu, Ruofan, Yan, Tizhen
Publicado 2021

Correction to: The value of single-molecule real-time technology in the diagnosis of rare thalassemia variants and analysis of phenotype–genotype correlation

por Luo, Shiqiang, Chen, Xingyuan, Zeng, Dingyuan, Tang, Ning, Yuan, Dejian, Zhong, Qingyan, Mao, Aiping, Xu, Ruofan, Yan, Tizhen
Publicado 2021

Analysis of a family with mitochondrial trifunctional protein deficiency caused by HADHA gene mutations

por Yang, Jinling, Yuan, Dejian, Tan, Xiaohui, Zeng, Yexi, Tang, Ning, Chen, Dayu, Tan, Jianqiang, Cai, Ren, Huang, Jun, Yan, Tizhen
Publicado 2022

Tandem Mass Spectrometry Screening for Inborn Errors of Metabolism in Newborns and High-Risk Infants in Southern China: Disease Spectrum and Genetic Characteristics in a Chinese Po...

por Tan, Jianqiang, Chen, Dayu, Chang, Rongni, Pan, Lizhen, Yang, Jinling, Yuan, Dejian, Huang, Lihua, Yan, Tizhen, Ning, Haiping, Wei, Jiangyan, Cai, Ren
Publicado 2021

Identification and Functional Characterization of a Novel Nonsense Variant in ARR3 in a Southern Chinese Family With High Myopia

por Yuan, Dejian, Yan, Tizhen, Luo, Shiqiang, Huang, Jun, Tan, Jianqiang, Zhang, Jianping, Zhang, Victor Wei, Lan, Yueyuan, Hu, Taobo, Guo, Jing, Huang, Mingwei, Zeng, Dingyuan
Publicado 2021

Detection of four rare thalassemia variants using Single-molecule realtime sequencing

por Luo, Shiqiang, Chen, Xingyuan, Zeng, Dingyuan, Tang, Ning, Yuan, Dejian, Liu, Bailing, Chen, Lizhu, Zhong, Qingyan, Li, Jiaqi, Liu, Yinyin, Chen, Jianping, Wang, Xiaoyuan, Yan, Tizhen
Publicado 2022