Whole-Exome Sequencing Identified a Novel Compound Heterozygous Mutation of LRRC6 in a Chinese Primary Ciliary Dyskinesia Patient

por Liu, Lv, Luo, Hong
Publicado 2018

Whole-Exome Sequencing Identified a De Novo Mutation of Junction Plakoglobin (p.R577C) in a Chinese Patient with Arrhythmogenic Right Ventricular Cardiomyopathy

por Liu, Lv, Chen, Chan, Li, YaLi, Yu, Rong
Publicado 2019

MITF p.Arg217Thr Variant Identified in a Han Chinese Family with Tietz/Waardenburg Syndrome

por Yu, Rong, Liu, Lv, Li, Ya-Li, Fan, Liang-Liang
Publicado 2021

Identification of two novel mutations in the SLCO2A1 prostaglandin transporter gene in a Chinese patient with primary hypertrophic osteoarthropathy

por Guo, Ting, Yang, Kai, Liu, Lv, Tan, Zhi-Ping, Luo, Hong
Publicado 2017

Case Report: Exome Sequencing Identified a Novel Frameshift Mutation of α-Actin 1 in a Chinese Family With Macrothrombocytopenia and Mild Bleeding

por Luo, Fang-Mei, Fan, Liang-Liang, Sheng, Yue, Dong, Yi, Liu, Lv
Publicado 2021

Case report: Identification of a recurrent pathogenic DHDDS mutation in Chinese family with epilepsy, intellectual disability and myoclonus

por Dong, Yi, Zhang, Yi, Sheng, Yue, Wang, Fang, Liu, Lv, Fan, Liang-Liang
Publicado 2023

Case Report: Chorea-Acanthocytosis Presents as Epilepsy in a Consanguineous Family With a Nonsense Mutation of in VPS13A

por Luo, Fang-Mei, Deng, Ming-Xing, Yu, Rong, Liu, Lv, Fan, Liang-Liang
Publicado 2021

Corrigendum: Case Report: Chorea-Acanthocytosis Presents as Epilepsy in a Consanguineous Family With a Nonsense Mutation of in VPS13A

por Luo, Fang-Mei, Deng, Ming-Xing, Yu, Rong, Liu, Lv, Fan, Liang-Liang
Publicado 2021

Whole‐genome sequencing revealed a novel long‐range deletion mutation spanning GNAS in familial pseudohypoparathyroidism

por Fei, Yangfan, Liu, Lv, Wu, Lixia, Wang, Ou, Xing, Xiaoping, Li, Aiping, Huang, Lingyi
Publicado 2023

Identification and functional characterization of a novel surfactant protein A2 mutation (p.N207Y) in a Chinese family with idiopathic pulmonary fibrosis

por Liu, Lv, Qin, Jieli, Guo, Ting, Chen, Ping, Ouyang, Ruoyun, Peng, Hong, Luo, Hong
Publicado 2020

Haploinsufficiency of KCNAB3 causes sudden cardiac death through delayed inactivation of Kv1.5 channel upon depolarization and induced myocardial apoptosis

por Ji, He-Yu, Lin, Zhao-Jing, Chen, Chan, Xu, Jun-Mei, Yu, Rong, Liu, Lv
Publicado 2022

Case report: A novel WASHC5 variant altering mRNA splicing causes spastic paraplegia in a patient

por Gao, Shan-Yu, Liu, Yu-Xing, Dong, Yi, Fan, Liang-Liang, Ding, Qi, Liu, Lv
Publicado 2023

A novel mutation of CTC1 leads to telomere shortening in a chinese family with interstitial lung disease

por Liu, Lv, Luo, Hua, Sheng, Yue, Kang, Xi, Peng, Hong, Luo, Hong, Fan, Liang-Liang
Publicado 2023

Doubly bi-allelic variants of MTHFR and MTHFD1 in a Chinese patient with hyperhomocysteinemia and failure of folic acid therapy

por Liu, Yu-Xing, Ding, Man-Hua, Sheng, Yue, Sun, Meng-Fei, Liu, Lv, Zhang, Yang
Publicado 2023

Effects of subanaesthetic S-ketamine on postoperative delirium and cognitive function in elderly patients undergoing non-cardiac thoracic surgery: a protocol for a randomised, doub...

por Wei, Wei, Zhang, Anyu, Liu, Lv, Zheng, Xi, Tang, Chunlin, Zhou, Ming, Gu, Yu, Yao, Yonghua
Publicado 2022

Impact of siRNA targeting of β-catenin on differentiation of rat neural stem cells and gene expression of Ngn1 and BMP4 following in vitro hypoxic-ischemic brain damage

por Zhang, Xiaoying, Zhu, Cuicui, Luo, Qiong, Dong, Jv, Liu, Lv, Li, Min, Zhu, Hongtao, Ma, Xiangping, Wang, Jun
Publicado 2016

Detection of Folliculin Gene Mutations in Two Chinese Families with Birt-Hogg-Dube Syndrome

por Liu, Lv, Yang, Kai, Wang, Xiang, Shi, Zhihui, Yang, Yifeng, Yuan, Yu, Guo, Ting, Xiao, Xiaocui, Luo, Hong
Publicado 2017

A novel heterozygous variant of the COL4A4 gene in a Chinese family with hematuria and proteinuria leads to focal segmental glomerulosclerosis and chronic kidney disease

por Fan, Liang‐Liang, Liu, Lv, Luo, Fang‐Mei, Du, Ran, Wang, Chen‐Yu, Dong, Yi, Liu, Ji‐Shi
Publicado 2020

Case report: A novel mutation of RecQ-like helicase 5 in a Chinese family with early myocardial infarction, coronary artery disease, and stroke hemiplegia

por Tang, Yi, Wang, Qian, Zhang, Wei-Kai, Liu, Yu-Xing, Zheng, Zhao-Fen, Fan, Liang-Liang, Liu, Lv, He, Jin
Publicado 2023

Identification of a novel mutation of NOG in family with proximal symphalangism and early genetic counseling

por Ma, Cong, Liu, Lv, Wang, Fang-Na, Tian, Hai-Shen, Luo, Yan, Yu, Rong, Fan, Liang-Liang, Li, Ya-Li
Publicado 2019