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

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

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

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

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

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

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

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

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

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

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

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

অনুযায়ী 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
প্রকাশিত Infect Drug Resist (2020)

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

অনুযায়ী 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
প্রকাশিত Sci Rep (2017)