Jing-Jing Li

发表

The genetic spectrum of familial hypercholesterolemia in the central south region of China.

K. Xia, R. Xiang, L. Fan, 2017, Atherosclerosis.

A novel splice-site mutation of WRN (c.IVS28+2T>C) identified in a consanguineous family with Werner Syndrome.

K. Xia, R. Xiang, L. Fan, 2017, Molecular medicine reports.

A mutation of beta-tropomyosin gene in a Chinese family with distal arthrogryposis type I.

R. Xiang, L. Fan, Hao Huang, 2017, International journal of clinical and experimental pathology.

Increased Reticulon 3 (RTN3) Leads to Obesity and Hypertriglyceridemia by Interacting With Heat Shock Protein Family A (Hsp70) Member 5 (HSPA5)

K. Xia, R. Yan, R. Xiang, 2018, Circulation.

Mutation detection in Chinese patients with familial hypercholesterolemia

K. Xia, R. Xiang, L. Fan, 2016, SpringerPlus.

Whole-Exome Sequencing Identifies a Novel Mutation of Desmocollin 2 in a Chinese Family With Arrhythmogenic Right Ventricular Cardiomyopathy.

R. Xiang, L. Fan, Jing-Jing Li, 2017, The American journal of cardiology.

Whole-exome sequencing reveals doubly novel heterozygous Myosin Binding Protein C and Titin mutations in a Chinese patient with severe dilated cardiomyopathy

L. Fan, Hao Huang, Jing-Jing Li, 2018, Cardiology in the Young.

Whole exome sequencing identifies a novel mutation (c.333 + 2T > C) of TNNI3K in a Chinese family with dilated cardiomyopathy and cardiac conduction disease.

R. Xiang, L. Fan, Hao Huang, 2018, Gene.

Whole‐exome sequencing identifies a novel mutation of GPD1L (R189X) associated with familial conduction disease and sudden death

R. Xiang, L. Fan, Hao Huang, 2017, Journal of cellular and molecular medicine.

Whole-Exome Sequencing Identifies a Novel Mutation (p.L320R) of Alpha-Actinin 2 in a Chinese Family with Dilated Cardiomyopathy and Ventricular Tachycardia

R. Xiang, L. Fan, Hao Huang, 2019, Cytogenetic and Genome Research.

A novel heterozygous variant p.(Trp538Arg) of SYNM is identified by whole‐exome sequencing in a Chinese family with dilated cardiomyopathy

R. Xiang, L. Fan, Hao Huang, 2018, Annals of human genetics.

Whole-exome sequencing identifies a Novel SCN5A mutation (C335R) in a Chinese family with arrhythmia

R. Xiang, L. Fan, Hao Huang, 2018, Cardiology in the Young.

Identification of a compound heterozygous mutation of ABCC2 in a patient with hyperbilirubinemia.

K. Xia, F. Wang, R. Xiang, 2017, Molecular medicine reports.

Long-term follow-up of an Alport syndrome patient with a novel mutation of COL 4 A 5

K. Xia, R. Xiang, L. Fan, 2017 .

Microduplication of 10q26.3 in a Chinese hypertriglyceridemia patient.

R. Xiang, L. Fan, Jing-Jing Li, 2017, Molecular and cellular probes.