Nan Pang

87 Xiang Ya Road
Changsha, 410008, China

Last Updated: 09/26/2026

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Found 26 publications

CNKSR2 gene variants causing Houge type of X-linked syndromic intellectual developmental disorder: Seven cases and literature review

CNKSR2 gene variants causing Houge type of X-linked syndromic intellectual developmental disorder: Seven cases and literature review

Journal: Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences

Published: June 05, 2026

The genetic spectrum features of 2261 Chinese children with epilepsy and intellectual disability.

The genetic spectrum features of 2261 Chinese children with epilepsy and intellectual disability.

Journal: BMC medicine

Published: December 30, 2024

Targeted sequencing identifies risk variants in 202 candidate genes for neurodevelopmental disorders.

Targeted sequencing identifies risk variants in 202 candidate genes for neurodevelopmental disorders.

Journal: Gene

Published: June 29, 2023

The genotype-phenotype correlations of the CACNA1A-related neurodevelopmental disorders: a small case series and literature reviews.

The genotype-phenotype correlations of the CACNA1A-related neurodevelopmental disorders: a small case series and literature reviews.

Journal: Frontiers in molecular neuroscience

Published: May 14, 2023

A presumed missense variant in the U2AF2 gene causes exon skipping in neurodevelopmental diseases.

A presumed missense variant in the U2AF2 gene causes exon skipping in neurodevelopmental diseases.

Journal: Journal of human genetics

Published: November 01, 2022

Altered cerebellar-motor loop in benign adult familial myoclonic epilepsy type 1: The structural basis of cortical tremor.

Altered cerebellar-motor loop in benign adult familial myoclonic epilepsy type 1: The structural basis of cortical tremor.

Journal: Epilepsia

Published: July 13, 2022

The second-tier status of fragile X syndrome testing for unexplained intellectual disability/global developmental delay in the era of next-generation sequencing.

The second-tier status of fragile X syndrome testing for unexplained intellectual disability/global developmental delay in the era of next-generation sequencing.

Journal: Frontiers in pediatrics

Published: April 03, 2022

Splicing Interruption by Intron Variants in CSNK2B Causes Poirier-Bienvenu Neurodevelopmental Syndrome: A Focus on Genotype-Phenotype Correlations.

Splicing Interruption by Intron Variants in CSNK2B Causes Poirier-Bienvenu Neurodevelopmental Syndrome: A Focus on Genotype-Phenotype Correlations.

Journal: Frontiers in neuroscience

Published: March 09, 2022

Restoration of Sarco/Endoplasmic Reticulum Ca2+-ATPase Activity Functions as a Pivotal Therapeutic Target of Anti-Glutamate-Induced Excitotoxicity to Attenuate Endoplasmic Reticulum Ca2+ Depletion.

Restoration of Sarco/Endoplasmic Reticulum Ca2+-ATPase Activity Functions as a Pivotal Therapeutic Target of Anti-Glutamate-Induced Excitotoxicity to Attenuate Endoplasmic Reticulum Ca2+ Depletion.

Journal: Frontiers in pharmacology

Published: February 16, 2022

Etiologic Classification of 541 Infantile Spasms Cases: A Cohort Study.

Etiologic Classification of 541 Infantile Spasms Cases: A Cohort Study.

Journal: Frontiers in pediatrics

Published: September 13, 2021

Genome sequencing demonstrates high diagnostic yield in children with undiagnosed global developmental delay/intellectual disability: A prospective study.

Genome sequencing demonstrates high diagnostic yield in children with undiagnosed global developmental delay/intellectual disability: A prospective study.

Journal: Human mutation

Published: August 25, 2021

Mutations in aminoacyl-tRNA synthetase genes: an analysis of 10 cases

Mutations in aminoacyl-tRNA synthetase genes: an analysis of 10 cases

Journal: Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics

Published: June 24, 2020

Showing 1-12 of 26

Last Updated: 09/26/2026