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

av MA, DINGYUAN, ZHANG, JINGJING, LUO, CHUNYU, LIN, YING, JI, XIUQING, HU, PING, XU, ZHENGFENG
I publikationen Mol Med Rep (2016)

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

av Wang, Ya, Luo, Chunyu, Cheng, Yiwei, Li, Li, Liang, Dong, Hu, Ping, Xu, Zhengfeng
I publikationen J Transl Med (2021)

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

av Qiao, Fengchang, Wang, Chen, Luo, Chunyu, Wang, Yan, Shao, Binbin, Tan, Jianxin, Hu, Ping, Xu, Zhengfeng
I publikationen Mol Genet Genomic Med (2019)

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

av Zhang, Jingjing, Ma, Dingyuan, Liu, Gang, Wang, Yuguo, Liu, An, Li, Li, Luo, Chunyu, Hu, Ping, Xu, Zhengfeng
I publikationen BMC Med Genet (2019)

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

av Zhou, Jing, Tan, Jianxin, Ma, Dingyuan, Zhang, Jingjing, Cheng, Jian, Luo, Chunyu, Liu, Gang, Wang, Yuguo, Xu, Zhengfeng
I publikationen 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

av Ma, Dingyuan, Tan, Jianxin, Zhou, Jing, Zhang, Jingjing, Cheng, Jian, Luo, Chunyu, Liu, Gang, Wang, Yuguo, Xu, Zhengfeng
I publikationen 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

av Liu, Gang, Ma, Dingyuan, Cheng, Jian, Zhang, Jingjing, Luo, Chunyu, Sun, Yun, Hu, Ping, Wang, Yuguo, Jiang, Tao, Xu, Zhengfeng
I publikationen 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

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

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

av 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
I publikationen Infect Drug Resist (2020)

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

av 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
I publikationen Front Cardiovasc Med (2021)

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

av 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
I publikationen Sci Rep (2017)