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

ανά MA, DINGYUAN, ZHANG, JINGJING, LUO, CHUNYU, LIN, YING, JI, XIUQING, HU, PING, XU, ZHENGFENG
Τόπος έκδοσης Mol Med Rep (2016)

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

ανά Wang, Ya, Luo, Chunyu, Cheng, Yiwei, Li, Li, Liang, Dong, Hu, Ping, Xu, Zhengfeng
Τόπος έκδοσης J Transl Med (2021)

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

ανά Qiao, Fengchang, Wang, Chen, Luo, Chunyu, Wang, Yan, Shao, Binbin, Tan, Jianxin, Hu, Ping, Xu, Zhengfeng
Τόπος έκδοσης Mol Genet Genomic Med (2019)

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

ανά Zhang, Jingjing, Ma, Dingyuan, Liu, Gang, Wang, Yuguo, Liu, An, Li, Li, Luo, Chunyu, Hu, Ping, Xu, Zhengfeng
Τόπος έκδοσης BMC Med Genet (2019)

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

ανά Zhou, Jing, Tan, Jianxin, Ma, Dingyuan, Zhang, Jingjing, Cheng, Jian, Luo, Chunyu, Liu, Gang, Wang, Yuguo, Xu, Zhengfeng
Τόπος έκδοσης 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

ανά Ma, Dingyuan, Tan, Jianxin, Zhou, Jing, Zhang, Jingjing, Cheng, Jian, Luo, Chunyu, Liu, Gang, Wang, Yuguo, Xu, Zhengfeng
Τόπος έκδοσης 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

ανά Liu, Gang, Ma, Dingyuan, Cheng, Jian, Zhang, Jingjing, Luo, Chunyu, Sun, Yun, Hu, Ping, Wang, Yuguo, Jiang, Tao, Xu, Zhengfeng
Τόπος έκδοσης 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

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

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

ανά 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
Τόπος έκδοσης Infect Drug Resist (2020)

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

ανά 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
Τόπος έκδοσης Front Cardiovasc Med (2021)

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

ανά 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
Τόπος έκδοσης Sci Rep (2017)