Jiaping Wang

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

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

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

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

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

Rett and Rett-like syndrome: Expanding the genetic spectrum to KIF1A and GRIN1 gene.

Rett and Rett-like syndrome: Expanding the genetic spectrum to KIF1A and GRIN1 gene.

Journal: Molecular genetics & genomic medicine

Published: August 28, 2018

Clinical and genetic features of five patients with Allan-Herndon-Dudley syndrome

Clinical and genetic features of five patients with Allan-Herndon-Dudley syndrome

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

Published: August 12, 2018

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

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: August 11, 2018

Gene mutational analysis in a cohort of Chinese children with unexplained epilepsy: Identification of a new KCND3 phenotype and novel genes causing Dravet syndrome.

Gene mutational analysis in a cohort of Chinese children with unexplained epilepsy: Identification of a new KCND3 phenotype and novel genes causing Dravet syndrome.

Journal: Seizure

Published: June 18, 2018

Novel MEF2C point mutations in Chinese patients with Rett (-like) syndrome or non-syndromic intellectual disability: insights into genotype-phenotype correlation.

Novel MEF2C point mutations in Chinese patients with Rett (-like) syndrome or non-syndromic intellectual disability: insights into genotype-phenotype correlation.

Journal: BMC medical genetics

Published: May 23, 2018

Showing 1-12 of 15

Last Updated: 09/26/2026