Xiuwei Ma
Beijing, 100700, China
Last Updated: 09/26/2026
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Found 9 publications
Genetic and phenotypic analysis of 225 Chinese children with developmental delay and/or intellectual disability using whole-exome sequencing.
Journal: BMC genomics
Published: October 17, 2023
The effects of early combined training on the physical development of preterm infants with different gestational ages.
Journal: Frontiers in pediatrics
Published: October 11, 2022
Seizure course of PCDH19 clustering epilepsy in female children: A multicentre cohort study in China.
Journal: Developmental medicine and child neurology
Published: April 06, 2022
Case Report: Identification of Two Variants of ALG13 in Families With or Without Seizure and Binocular Strabismus: Phenotypic Spectrum Analysis.
Journal: Frontiers in genetics
Published: March 09, 2022
A Novel Variant of the CHD2 Gene Associated With Developmental Delay and Myoclonic Epilepsy.
Journal: Frontiers in genetics
Published: August 19, 2021
Generation of an iPSC line (SMCPGi001-A) from a patient with Bain type X-linked mental retardation syndrome carrying HNRNPH2 gene mutation.
Journal: Stem cell research
Published: July 22, 2021
Three intellectual disability-associated de novo mutations in MECP2 identified by trio-WES analysis.
Three intellectual disability-associated de novo mutations in MECP2 identified by trio-WES analysis.
Journal: BMC medical genetics
Published: April 02, 2020
De novo SCN1A, SCN8A, and CLCN2 mutations in childhood absence epilepsy.
Journal: Epilepsy research
Published: January 21, 2019
Identification of two novel TPK1 gene mutations in a Chinese patient with thiamine pyrophosphokinase deficiency undergoing whole exome sequencing.
Journal: Journal of pediatric endocrinology & metabolism : JPEM
Published: September 06, 2018
Showing 1-9 of 9
Last Updated: 09/26/2026