Chaoxia Lu

No. 119, South Fourth Ring West Road
Fengtai, 100070, China

Last Updated: 09/26/2026

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Found 17 publications

JAK2 pathogenic variants in ischemic stroke: low prevalence and pre-screening model.

JAK2 pathogenic variants in ischemic stroke: low prevalence and pre-screening model.

Journal: Journal of neurology

Published: September 19, 2025

Neglected Mendelian causes of stroke in adult Chinese patients who had an ischaemic stroke or transient ischaemic attack.

Neglected Mendelian causes of stroke in adult Chinese patients who had an ischaemic stroke or transient ischaemic attack.

Journal: Stroke and vascular neurology

Published: November 11, 2022

Keratin 5-Cre-driven deletion of Ncstn in an acne inversa-like mouse model leads to a markedly increased IL-36a and Sprr2 expression.

Keratin 5-Cre-driven deletion of Ncstn in an acne inversa-like mouse model leads to a markedly increased IL-36a and Sprr2 expression.

Journal: Frontiers of medicine

Published: May 16, 2019

Application of next-generation sequencing to screen for pathogenic mutations in 123 unrelated Chinese patients with Marfan syndrome or a related disease.

Application of next-generation sequencing to screen for pathogenic mutations in 123 unrelated Chinese patients with Marfan syndrome or a related disease.

Journal: Science China. Life sciences

Published: October 29, 2018

Genotypic and phenotypic characterization of Chinese patients with osteogenesis imperfecta.

Genotypic and phenotypic characterization of Chinese patients with osteogenesis imperfecta.

Journal: Human mutation

Published: June 15, 2018

Molecular analysis of inherited cardiomyopathy using next generation semiconductor sequencing technologies.

Molecular analysis of inherited cardiomyopathy using next generation semiconductor sequencing technologies.

Journal: Journal of translational medicine

Published: May 03, 2018

Clinical and genetic characteristics of Chinese patients with familial or sporadic pediatric cataract.

Clinical and genetic characteristics of Chinese patients with familial or sporadic pediatric cataract.

Journal: Orphanet journal of rare diseases

Published: February 08, 2018

Gross deletions in FBN1 results in variable phenotypes of Marfan syndrome.

Gross deletions in FBN1 results in variable phenotypes of Marfan syndrome.

Journal: Clinica chimica acta; international journal of clinical chemistry

Published: May 18, 2017

RNF213 as the major susceptibility gene for Chinese patients with moyamoya disease and its clinical relevance.

RNF213 as the major susceptibility gene for Chinese patients with moyamoya disease and its clinical relevance.

Journal: Journal of neurosurgery

Published: April 30, 2016

Spectrum of COL1A1/2 mutations and gene diagnosis in Chinese patients with osteogenesis imperfecta

Spectrum of COL1A1/2 mutations and gene diagnosis in Chinese patients with osteogenesis imperfecta

Journal: Zhonghua yi xue za zhi

Published: January 28, 2016

Spectrum of AGL mutations in Chinese patients with glycogen storage disease type III: identification of 31 novel mutations.

Spectrum of AGL mutations in Chinese patients with glycogen storage disease type III: identification of 31 novel mutations.

Journal: Journal of human genetics

Published: August 27, 2015

Genetic Analysis and Follow-Up of 25 Neonatal Diabetes Mellitus Patients in China.

Genetic Analysis and Follow-Up of 25 Neonatal Diabetes Mellitus Patients in China.

Journal: Journal of diabetes research

Published: July 04, 2015

Showing 1-12 of 17

Last Updated: 09/26/2026