Genetic counseling for patients with nonsyndromic hearing impairment directed by gene analysis

por MA, DINGYUAN, ZHANG, JINGJING, LUO, CHUNYU, LIN, YING, JI, XIUQING, HU, PING, XU, ZHENGFENG
Publicado en Mol Med Rep (2016)

Analysis of microbial differences in amniotic fluid between advanced and normal age pregnant women

por Wang, Ya, Luo, Chunyu, Cheng, Yiwei, Li, Li, Liang, Dong, Hu, Ping, Xu, Zhengfeng
Publicado en J Transl Med (2021)

A De Novo heterozygous frameshift mutation identified in BCL11B causes neurodevelopmental disorder by whole exome sequencing

por Qiao, Fengchang, Wang, Chen, Luo, Chunyu, Wang, Yan, Shao, Binbin, Tan, Jianxin, Hu, Ping, Xu, Zhengfeng
Publicado en Mol Genet Genomic Med (2019)

Genetic analysis of 62 Chinese families with Duchenne muscular dystrophy and strategies of prenatal diagnosis in a single center

por Zhang, Jingjing, Ma, Dingyuan, Liu, Gang, Wang, Yuguo, Liu, An, Li, Li, Luo, Chunyu, Hu, Ping, Xu, Zhengfeng
Publicado en BMC Med Genet (2019)

Identification of Two Novel LAMA2 Mutations in a Chinese Patient with Congenital Muscular Dystrophy

por Zhou, Jing, Tan, Jianxin, Ma, Dingyuan, Zhang, Jingjing, Cheng, Jian, Luo, Chunyu, Liu, Gang, Wang, Yuguo, Xu, Zhengfeng
Publicado en Front Genet (2018)

A novel splice site mutation in the UBE2A gene leads to aberrant mRNA splicing in a Chinese patient with X‐linked intellectual disability type Nascimento

por Ma, Dingyuan, Tan, Jianxin, Zhou, Jing, Zhang, Jingjing, Cheng, Jian, Luo, Chunyu, Liu, Gang, Wang, Yuguo, Xu, Zhengfeng
Publicado en Mol Genet Genomic Med (2019)

Identification and characterization of a novel 43-bp deletion mutation of the ATP7B gene in a Chinese patient with Wilson’s disease: a case report

por Liu, Gang, Ma, Dingyuan, Cheng, Jian, Zhang, Jingjing, Luo, Chunyu, Sun, Yun, Hu, Ping, Wang, Yuguo, Jiang, Tao, Xu, Zhengfeng
Publicado en BMC Med Genet (2018)

A Novel Whole Gene Deletion of BCKDHB by Alu-Mediated Non-allelic Recombination in a Chinese Patient With Maple Syrup Urine Disease

por Liu, Gang, Ma, Dingyuan, Hu, Ping, Wang, Wen, Luo, Chunyu, Wang, Yan, Sun, Yun, Zhang, Jingjing, Jiang, Tao, Xu, Zhengfeng
Publicado en Front Genet (2018)

Genomic Epidemiology of an Outbreak of Klebsiella pneumoniae ST471 Producing Extended-Spectrum β-Lactamases in a Neonatal Intensive Care Unit

por Wang, Yuan, Luo, Chunyu, Du, Pengcheng, Hu, Jinrui, Zhao, Xiaowei, Mo, Dianjun, Du, Xiaoli, Xu, Xin, Li, Man, Lu, Hong, Zhou, Zhiqiang, Cui, Zhigang, Zhou, Haijian
Publicado en Infect Drug Resist (2020)

Analysis of Biomarkers for Congenital Heart Disease Based on Maternal Amniotic Fluid Metabolomics

por Li, Yahong, Sun, Yun, Yang, Lan, Huang, Mingtao, Zhang, Xiaojuan, Wang, Xin, Guan, Xianwei, Yang, Peiying, Wang, Yan, Meng, Lulu, Zhou, Ran, Zhou, Xiaoyan, Luo, Chunyu, Hu, Ping, Jiang, Tao, Xu, Zhengfeng
Publicado en Front Cardiovasc Med (2021)

Noninvasive prenatal diagnosis of 21-Hydroxylase deficiency using target capture sequencing of maternal plasma DNA

por Ma, Dingyuan, Yuan, Yuan, Luo, Chunyu, Wang, Yaoshen, Jiang, Tao, Guo, Fengyu, Zhang, Jingjing, Chen, Chao, Sun, Yun, Cheng, Jian, Hu, Ping, Wang, Jian, Yang, Huanming, Yi, Xin, Wang, Wei, Asan, Xu, Zhengfeng
Publicado en Sci Rep (2017)