Xuelian He

No. 100 Xianggang Road
Wuhan, 430015, China

Last Updated: 09/26/2026

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Found 27 publications

Regulation of cortical neurogenesis by MED13L via transcriptional priming and its implications for MED13L syndrome.

Regulation of cortical neurogenesis by MED13L via transcriptional priming and its implications for MED13L syndrome.

Journal: Communications biology

Published: February 26, 2025

Clinical and genetic characterization of congenital disorders of glycosylation in 20 Chinese patients.

Clinical and genetic characterization of congenital disorders of glycosylation in 20 Chinese patients.

Journal: Orphanet journal of rare diseases

Published: January 10, 2025

Reference intervals of inhibin B in Chinese children on chemiluminescence analyzer.

Reference intervals of inhibin B in Chinese children on chemiluminescence analyzer.

Journal: Scientific reports

Published: December 11, 2024

A novel USP27X missense variant identified in an individual with intellectual disability.

A novel USP27X missense variant identified in an individual with intellectual disability.

Journal: Journal of human genetics

Published: August 22, 2024

Identification of two novel variants in ALG11 causing congenital disorder of glycosylation.

Identification of two novel variants in ALG11 causing congenital disorder of glycosylation.

Journal: Seizure

Published: May 17, 2024

A new-disease-causing dominant-negative variant in CARD11 gene in a Chinese case with recurrent fever.

A new-disease-causing dominant-negative variant in CARD11 gene in a Chinese case with recurrent fever.

Journal: Scientific reports

Published: January 12, 2024

Activated phosphoinositide 3-kinase δ syndrome caused by PIK3CD mutations: expanding the phenotype.

Activated phosphoinositide 3-kinase δ syndrome caused by PIK3CD mutations: expanding the phenotype.

Journal: Pediatric rheumatology online journal

Published: July 17, 2023

The Role of KDM2A and H3K36me2 Demethylation in Modulating MAPK Signaling During Neurodevelopment.

The Role of KDM2A and H3K36me2 Demethylation in Modulating MAPK Signaling During Neurodevelopment.

Journal: Neuroscience bulletin

Published: July 06, 2023

Combined effects of high-fat diet and polystyrene microplastic exposure on microplastic bioaccumulation and lipid metabolism in zebrafish.

Combined effects of high-fat diet and polystyrene microplastic exposure on microplastic bioaccumulation and lipid metabolism in zebrafish.

Journal: Fish & shellfish immunology

Published: April 18, 2023

Clinical features of CNOT3-associated neurodevelopmental disorder in three Chinese patients.

Clinical features of CNOT3-associated neurodevelopmental disorder in three Chinese patients.

Journal: Neurogenetics

Published: November 29, 2022

Identification of a novel TNNI3 synonymous variant causing intron retention in autosomal recessive dilated cardiomyopathy.

Identification of a novel TNNI3 synonymous variant causing intron retention in autosomal recessive dilated cardiomyopathy.

Journal: Gene

Published: September 06, 2022

Next generation sequencing is a highly reliable method to analyze exon 7 deletion of survival motor neuron 1 (SMN1) gene.

Next generation sequencing is a highly reliable method to analyze exon 7 deletion of survival motor neuron 1 (SMN1) gene.

Journal: Scientific reports

Published: July 02, 2021

Showing 1-12 of 27

Last Updated: 09/26/2026