Xiaohong Chen

发表

Novel pathogenic OCRL mutations and genotype–phenotype analysis of Chinese children affected by oculocerebrorenal syndrome: two cases and a literature review

Linxia Deng, Yaxian Chen, Jianhua Zhou, 2021, BMC medical genomics.

Novel Compound Heterozygous Variants of ETHE1 Causing Ethylmalonic Encephalopathy in a Chinese Patient: A Case Report

Hui Yao, Lin Han, Xiaohong Chen, 2020, Frontiers in Genetics.

Case report: Novel compound-heterozygous mutations in the TCN2 gene identified in a chinese girl with transcobalamin deficiency

Man Hu, T. Du, Hongxiu Guo, 2022, Frontiers in Genetics.

Novel variants and phenotypic heterogeneity in a cohort of 11 Chinese children with Wiedemann-Steiner syndrome

R. Du, Wen Zhang, Yunting Lin, 2023, Frontiers in Genetics.

Efficacy and safety of diazoxide for treating hyperinsulinemic hypoglycemia: A systematic review and meta-analysis.

Yuan Qin, Luhong Yang, Hui Yao, 2021, PloS one.

Case Report: Next-Generation Sequencing Identified a Novel Pair of Compound-Heterozygous Mutations of LPL Gene Causing Lipoprotein Lipase Deficiency

Man Hu, T. Du, Xiaoqian Chen, 2022, Frontiers in Genetics.

Clinical profile, genetic spectrum and therapy evaluation of 19 Chinese pediatric patients with lipoprotein lipase deficiency.

L. Liang, W. Qiu, Deyun Lu, 2023, Journal of clinical lipidology.

Identification of c.1495C > T mutation in SPAST gene in a family of Han Chinese with hereditary spastic paraplegia

Renshi Xu, Yu Tan, Dejiang Yang, 2023, Neuroscience Letters.

Novel MTR compound-heterozygous mutations in a Chinese girl with HHcy due to methionine synthase deficiency, cblG: a case report

P. Zhao, Luhong Yang, Hui Yao, 2024, Egyptian Journal of Medical Human Genetics.