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

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

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

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

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

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

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

Tekijä Zhou, Jing, Tan, Jianxin, Ma, Dingyuan, Zhang, Jingjing, Cheng, Jian, Luo, Chunyu, Liu, Gang, Wang, Yuguo, Xu, Zhengfeng
Julkaisussa 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

Tekijä Ma, Dingyuan, Tan, Jianxin, Zhou, Jing, Zhang, Jingjing, Cheng, Jian, Luo, Chunyu, Liu, Gang, Wang, Yuguo, Xu, Zhengfeng
Julkaisussa 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

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

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

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

Tekijä 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
Julkaisussa Infect Drug Resist (2020)

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

Tekijä 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
Julkaisussa Sci Rep (2017)