Jia Jia

发表

A de novo heterozygous cardiac ryanodine receptor gene (RYR2) mutation in a catecholaminergic polymorphic ventricular tachycardia patient

Lijian Xie, T. Xiao, Xiaomin Sun, 2019, Gene Reports.

A multiplex ligation‑dependent probe amplification‑based next‑generation sequencing approach for the detection of copy number variations in the human genome.

Hong Zhang, Dongkai Wei, Wuhen Xu, 2018, Molecular medicine reports.

Novel Mutations of the ALMS1 Gene in Patients with Alström Syndrome

Xiaoping Lan, Shengnan Wu, F. Zeng, 2021, Internal medicine.

Case Report: Novel LIM domain-binding protein 3 (LDB3) mutations associated with hypertrophic cardiomyopathy family

Wei Liu, Xiaopei Zhao, Lijian Xie, 2022, Frontiers in Pediatrics.

Whole-genome sequencing of six dog breeds from continuous altitudes reveals adaptation to high-altitude hypoxia

Chaochun Wei, Yulin Yan, Weidong Deng, 2014, Genome research.

Prediction for Intravenous Immunoglobulin Resistance Combining Genetic Risk Loci Identified From Next Generation Sequencing and Laboratory Data in Kawasaki Disease

Qianqian Ning, S. Hao, Sirui Song, 2020, Frontiers in Pediatrics.

Compound heterozygous mutations of two eIF2B genes in early childhood onset form of vanishing white matter disease

Xiaoping Lan, Shengnan Wu, Yucai Chen, 2020 .

Novel homozygous mutation in the FBXL4 gene is associated with mitochondria DNA depletion syndrome-13

Xiaoping Lan, Shengnan Wu, Changsheng Liu, 2020, Journal of the Neurological Sciences.

The Platelet microRNA Profile of Kawasaki Disease: Identification of Novel Diagnostic Biomarkers

F. Chen, Qianqian Ning, Hong Zhang, 2020, BioMed research international.

An interesting Mybpc3 heterozygous mutation associated with bicuspid aortic valve

Lijian Xie, T. Xiao, Yun Li, 2020, Translational pediatrics.