Yongxin Wen

Beijing, China

Last Updated: 09/26/2026

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Found 15 publications

Clinical and genetic characteristics of familial cases with Glucose transporter 1 deficiency syndrome

Clinical and genetic characteristics of familial cases with Glucose transporter 1 deficiency syndrome

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

Published: June 24, 2025

Corrigendum to: Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes.

Corrigendum to: Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes.

Journal: Molecular genetics and metabolism

Published: July 15, 2023

Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes.

Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes.

Journal: Molecular genetics and metabolism

Published: March 14, 2023

MECP2 germline mosaicism plays an important part in the inheritance of Rett syndrome: a study of MECP2 germline mosaicism in males.

MECP2 germline mosaicism plays an important part in the inheritance of Rett syndrome: a study of MECP2 germline mosaicism in males.

Journal: BMC medicine

Published: August 09, 2022

Report of the Largest Chinese Cohort With SLC19A3 Gene Defect and Literature Review.

Report of the Largest Chinese Cohort With SLC19A3 Gene Defect and Literature Review.

Journal: Frontiers in genetics

Published: March 31, 2021

CACNA1A Gene Variants in Eight Chinese Patients With a Wide Range of Phenotypes.

CACNA1A Gene Variants in Eight Chinese Patients With a Wide Range of Phenotypes.

Journal: Frontiers in pediatrics

Published: June 29, 2020

Rett syndrome-causing mutations compromise MeCP2-mediated liquid-liquid phase separation of chromatin.

Rett syndrome-causing mutations compromise MeCP2-mediated liquid-liquid phase separation of chromatin.

Journal: Cell research

Published: January 07, 2020

MECP2 mutation spectrum and its clinical characteristics in a Chinese cohort.

MECP2 mutation spectrum and its clinical characteristics in a Chinese cohort.

Journal: Clinical genetics

Published: December 27, 2019

The genetic and clinical characteristics of aromatic L-amino acid decarboxylase deficiency in mainland China.

The genetic and clinical characteristics of aromatic L-amino acid decarboxylase deficiency in mainland China.

Journal: Journal of human genetics

Published: December 16, 2019

Clinical and Genetic Heterogeneity in a Cohort of Chinese Children With Dopa-Responsive Dystonia.

Clinical and Genetic Heterogeneity in a Cohort of Chinese Children With Dopa-Responsive Dystonia.

Journal: Frontiers in pediatrics

Published: October 28, 2019

DYT28 Responsive to Pallidal Deep Brain Stimulation.

DYT28 Responsive to Pallidal Deep Brain Stimulation.

Journal: Movement disorders clinical practice

Published: February 24, 2019

Correction: Genomic mosaicism in the pathogenesis and inheritance of a Rett syndrome cohort.

Correction: Genomic mosaicism in the pathogenesis and inheritance of a Rett syndrome cohort.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: February 21, 2019

Showing 1-12 of 15

Last Updated: 09/26/2026