Xiaoli L. Chen

No. 2 Yabao Rd
Beijing, 100020, China

Last Updated: 09/26/2026

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Found 50 publications

Landscape of Somatic Mutations in a Large Cohort of Chinese Patients With Immune Dysregulations.

Landscape of Somatic Mutations in a Large Cohort of Chinese Patients With Immune Dysregulations.

Journal: Arthritis & rheumatology (Hoboken, N.J.)

Published: September 18, 2025

Clinical and genetic characteristics of SCN2A gene related developmental delay

Clinical and genetic characteristics of SCN2A gene related developmental delay

Journal: Zhonghua yu fang yi xue za zhi [Chinese journal of preventive medicine]

Published: May 15, 2025

Neurodevelopmental trajectories and mis-splicing in Chinese patients caused by novel EFTUD2 mutations.

Neurodevelopmental trajectories and mis-splicing in Chinese patients caused by novel EFTUD2 mutations.

Journal: Gene

Published: April 25, 2025

The effects of different light qualities on the growth and nutritional components of Pleurotus citrinopileatus.

The effects of different light qualities on the growth and nutritional components of Pleurotus citrinopileatus.

Journal: Frontiers in nutrition

Published: January 06, 2025

Topographic location and connectivity to channel of earthquake- and rainfall-induced landslides in Loess Plateau area.

Topographic location and connectivity to channel of earthquake- and rainfall-induced landslides in Loess Plateau area.

Journal: Scientific reports

Published: October 11, 2024

A novel compound heterozygous mutation of UFC1 in a patient with neurodevelopmental disorder.

A novel compound heterozygous mutation of UFC1 in a patient with neurodevelopmental disorder.

Journal: Genes & genomics

Published: March 27, 2024

Clinical and genetic characteristics of 21 children with Rubinstein-Taybi syndrome

Clinical and genetic characteristics of 21 children with Rubinstein-Taybi syndrome

Journal: Zhonghua er ke za zhi = Chinese journal of pediatrics

Published: March 25, 2024

MARK2 variants cause autism spectrum disorder via the downregulation of WNT/β-catenin signaling pathway.

MARK2 variants cause autism spectrum disorder via the downregulation of WNT/β-catenin signaling pathway.

Journal: American journal of human genetics

Published: March 25, 2024

The development and nutritional quality of Lyophyllum decastes affected by monochromatic or mixed light provided by light-emitting diode.

The development and nutritional quality of Lyophyllum decastes affected by monochromatic or mixed light provided by light-emitting diode.

Journal: Frontiers in nutrition

Published: March 21, 2024

Confirming the enzymatic activity and neurodevelopmental trajectory of PYCR1 mutation in one child with autosomal-recessive cutis laxa type 2.

Confirming the enzymatic activity and neurodevelopmental trajectory of PYCR1 mutation in one child with autosomal-recessive cutis laxa type 2.

Journal: Molecular genetics and genomics : MGG

Published: February 09, 2024

Correlation of early neurodevelopmental features of children with SYNGAP1 variants and their genotypes

Correlation of early neurodevelopmental features of children with SYNGAP1 variants and their genotypes

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

Published: January 03, 2024

Using inflammatory biomarkers in early pregnancy to predict subsequent antenatal depression.

Using inflammatory biomarkers in early pregnancy to predict subsequent antenatal depression.

Journal: Journal of affective disorders

Published: November 28, 2023

Showing 1-12 of 50

Last Updated: 09/26/2026