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Frontiers in Genetics|November 15, 2021
Case Report: A Novel CACNA1S Mutation Associated With Hypokalemic Periodic Paralysis in a Chinese FamilyJie-Yuan Jin, Bing-Bing Guo, Yi Dong, et al.
Frontiers in Genetics|August 8, 2020
A Novel Nonsense Mutation of ABCA8 in a Han-Chinese Family With ASCVD Leads to the Reduction of HDL-c LevelsChen-Yu Wang, Ya-Qin Chen, Jie-Yuan Jin, et al.
Cytogenetic and Genome Research|January 11, 2019
Whole-Exome Sequencing Identifies a Novel Mutation (p.L320R) of Alpha-Actinin 2 in a Chinese Family with Dilated Cardiomyopathy and Ventricular TachycardiaLiang-Liang Fan, Hao Huang, Jie-Yuan Jin, et al.
Electrophoresis|January 5, 2020
Enhanced viscoelastic focusing of particle in microchannelLiang-Liang Fan, Zhi Zhao, Yi-Yi Tao, et al.
Molecular Syndromology|September 9, 2020
Identification of a Novel Arginine Vasopressin Receptor 2 Mutation (p.V183M) in a Chinese Family with Nephrogenic Diabetes InsipidusJi-Shi Liu, Hao Huang, Jie-Yuan Jin, et al.
Frontiers in Genetics|January 23, 2023
The first case report of CODAS syndrome in Chinese population caused by two LONP1 pathogenic mutationsYi Tang, Yu-Xing Liu, Yue Sheng, et al.
Biomed Research International|October 5, 2021
Whole-Exome Sequencing Identified a Novel Homozygous Frameshift Mutation of HPS3 in a Consanguineous Family with Hermansky-Pudlak SyndromeZhao-Xia Wang, Yi-Hui Liu, Yi Dong, et al.
International Journal of Clinical and Experimental Pathology|January 23, 2020
Long-term follow-up of an Alport syndrome patient with a novel mutation of COL4A5Rong Xiang, Jing-Jing Li, Ji-Shi Liu, et al.
Cardiology in the Young|August 16, 2018
Whole-exome sequencing reveals doubly novel heterozygous Myosin Binding Protein C and Titin mutations in a Chinese patient with severe dilated cardiomyopathyLiang-Liang Fan, Ya-Qin Chen, Hao Huang, et al.
Biomed Research International|May 29, 2020
Clinical and Genetic Analyses of 38 Chinese Patients with Peutz-Jeghers SyndromeBo-Da Wu, Yong-Jun Wang, Liang-Liang Fan, et al.
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