Precision Medicine for Continuing Phenotype Expansion of Human Genetic Diseases

por Yu, Hui, Zhang, Victor Wei
Publicado 2015

Missense mutation in DYNC1H1 gene caused psychomotor developmental delay and muscle weakness: A case report

por Ding, Feng-Juan, Lyu, Gui-Zhen, Zhang, Victor Wei, Jin, Hua
Publicado 2021

Multisystem Mitochondrial Disease Associated With a Mare m.10000G>A Mitochondrial tRNA(Gly) (MT-TG) Variant

por Yang, Haiyan, Zhang, Victor Wei, Ai, Liang, Gan, Siyi, Wu, Liwen
Publicado 2022

Case report: A novel mutation in TRPS1 identified in a Chinese family with tricho-rhino-phalangeal syndrome I: A therapeutic challenge

por Huang, Qi, Jiang, Cheng, Sun, Jiazhong, Xue, Junli, Zhang, Victor Wei
Publicado 2022

Identification of TUBB8 Variants in 5 Primary Infertile Women with Multiple Phenotypes in Oocytes and Early Embryos

por Yu, Wenzhu, Zhang, Shaodi, Yin, Baoli, Dong, Chang, Zhang, Victor Wei, Zhang, Cuilian
Publicado 2022

A SUCLG1 mutation in a patient with mitochondrial DNA depletion and congenital anomalies

por Landsverk, Megan L., Zhang, Victor Wei, Wong, Lee-Jun C., Andersson, Hans C.
Publicado 2014

Mutations in both SAMD9 and SLC19A2 genes caused complex phenotypes characterized by recurrent infection, dysphagia and profound deafness – a case report for dual diagnosis

por Zhang, Yan, Zhang, Yi, Zhang, Victor Wei, Zhang, Chunyi, Ding, Hongke, Yin, Aihua
Publicado 2019

Case Report: Two Chinese Infants of Sengers Syndrome Caused by Mutations in AGK Gene

por Wang, Benzhen, Du, Zhanhui, Shan, Guangsong, Yan, Chuanzhu, Zhang, Victor Wei, Li, Zipu
Publicado 2021

Improved molecular diagnosis by the detection of exonic deletions with target gene capture and deep sequencing

por Feng, Yanming, Chen, David, Wang, Guo-Li, Zhang, Victor Wei, Wong, Lee-Jun C.
Publicado 2015

Identification and Clinical Analysis of the First Nonsense Mutation in the PSEN1 Gene in a Family With Acute Encephalopathy and Retinitis Pigmentosa

por You, Chunlin, Zeng, Weike, Deng, Lingna, Lei, Zhihao, Gao, Xinyi, Zhang, Victor Wei, Wang, Yidong
Publicado 2020

Mesenchymal stem cells from different sources show distinct therapeutic effects in hyperoxia‐induced bronchopulmonary dysplasia in rats

por Xie, Yingjun, Chen, Fei, Jia, Lei, Chen, Rui, Zhang, Victor Wei, Zhong, Xinqi, Wang, Ding
Publicado 2021

Prevalence estimation of ATTRv in China based on genetic databases

por Yongsheng, Zheng, Chong, Sun, Bingyou, Liu, Jianian, Hu, Haofeng, Chen, Chongbo, Zhao, Zhang, Victor Wei, Jie, Lin
Publicado 2023

Autosomal dominant tubulointerstitial kidney disease genotype and phenotype correlation in a Chinese cohort

por Gong, Kunjing, Xia, Min, Wang, Yaqin, Wang, Na, Liu, Ying, Zhang, Victor Wei, Cheng, Hong, Chen, Yuqing
Publicado 2021

Expanding the mutational spectrum of Rahman syndrome: A rare disorder with severe intellectual disability and particular facial features in two Chinese patients

por Zhao, Jianbo, Lyu, Guizhen, Ding, Changhong, Wang, Xiaohui, Li, Jiuwei, Zhang, Weihua, Yang, Xinying, Zhang, Victor Wei
Publicado 2022

Case Report: Report of Two Cases of Interstitial Lung Disease Caused by Novel Compound Heterozygous Variants in the ABCA3 Gene

por Chen, Fang, Xie, Zhiwei, Zhang, Victor Wei, Chen, Chen, Fan, Huifeng, Zhang, Dongwei, Jiang, Wenhui, Wang, Chunli, Wu, Peiqiong
Publicado 2022

The clinical spectrum and genetic variability of limb-girdle muscular dystrophy in a cohort of Chinese patients

por Wang, Liang, Zhang, Victor Wei, Li, Shaoyuan, Li, Huan, Sun, Yiming, Li, Jing, Zhu, Yuling, He, Ruojie, Lin, Jinfu, Zhang, Cheng
Publicado 2018

Identification of a novel DNMT1 mutation in a Chinese patient with hereditary sensory and autonomic neuropathy type IE

por Zheng, Wenxia, Yan, Zhenxing, He, Rongni, Huang, Yaowei, Lin, Aiqun, Huang, Wei, Su, Yuying, Li, Shaoyuan, Zhang, Victor Wei, Xie, Huifang
Publicado 2018

Case Report: Be Aware of “New” Features of Niemann–Pick Disease: Insights From Two Pediatric Cases

por Chen, Fan, Guo, Shan, Li, Xuesong, Liu, Shengxuan, Wang, Li, Zhang, Victor Wei, Xu, Hui, Huang, Zhihua, Ying, Yanqin, Shu, Sainan
Publicado 2022

Kv3.1 channelopathy: a novel loss-of-function variant and the mechanistic basis of its clinical phenotypes

por Li, Xiaoyang, Zheng, Yongsheng, Li, Shaoyuan, Nair, Umesh, Sun, Chong, Zhao, Chongbo, Lu, Jiahong, Zhang, Victor Wei, Maljevic, Snezana, Petrou, Steven, Lin, Jie
Publicado 2021

Novel Mutations in the GTPBP3 Gene for Mitochondrial Disease and Characteristics of Related Phenotypic Spectrum: The First Three Cases From China

por Yan, Hui-ming, Liu, Zhi-mei, Cao, Bei, Zhang, Victor Wei, He, Yi-duo, Jia, Zheng-jun, Xi, Hui, Liu, Jing, Fang, Fang, Wang, Hua
Publicado 2021