Huifang S. Yan

Beijing, 102627, China

Last Updated: 09/26/2026

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Found 49 publications

Clinical characterization of SPTBN1, SPTBN2, and SPTBN5 variants: A case series and systematic review.

Clinical characterization of SPTBN1, SPTBN2, and SPTBN5 variants: A case series and systematic review.

Journal: Seizure

Published: January 20, 2026

Clinical characterization and structural modeling of a novel de novo SPTBN1 missense variant in a Chinese child.

Clinical characterization and structural modeling of a novel de novo SPTBN1 missense variant in a Chinese child.

Journal: BMC pediatrics

Published: December 11, 2025

Correction: SPOUT1 variants associated with autosomal-recessive developmental and epileptic encephalopathy.

Correction: SPOUT1 variants associated with autosomal-recessive developmental and epileptic encephalopathy.

Journal: Acta epileptologica

Published: September 12, 2025

Spatial lipidomics reveals altered lipid profiles in TMEM63A mutant rats with hypomyelination.

Spatial lipidomics reveals altered lipid profiles in TMEM63A mutant rats with hypomyelination.

Journal: Scientific reports

Published: February 20, 2025

SPOUT1 variants associated with autosomal-recessive developmental and epileptic encephalopathy.

SPOUT1 variants associated with autosomal-recessive developmental and epileptic encephalopathy.

Journal: Acta epileptologica

Published: May 18, 2024

Diversity and taxonomy of the genus Amanita (Amanitaceae, Agaricales) in the Yanshan Mountains, Northern China.

Diversity and taxonomy of the genus Amanita (Amanitaceae, Agaricales) in the Yanshan Mountains, Northern China.

Journal: Frontiers in plant science

Published: May 22, 2023

CCNK Gene Deficiency Influences Neural Progenitor Cells Via Wnt5a Signaling in CCNK-Related Syndrome.

CCNK Gene Deficiency Influences Neural Progenitor Cells Via Wnt5a Signaling in CCNK-Related Syndrome.

Journal: Annals of neurology

Published: February 13, 2023

Superresolution live-cell imaging reveals that the localization of TMEM106B to filopodia in oligodendrocytes is compromised by the hypomyelination-related D252N mutation.

Superresolution live-cell imaging reveals that the localization of TMEM106B to filopodia in oligodendrocytes is compromised by the hypomyelination-related D252N mutation.

Journal: Science China. Life sciences

Published: November 07, 2022

Development of the certified reference material of chromium in freeze-dried human urine

Development of the certified reference material of chromium in freeze-dried human urine

Journal: Wei sheng yan jiu = Journal of hygiene research

Published: October 12, 2022

Using Urinary Biomarkers to Estimate the Benzene Exposure Levels in Individuals Exposed to Benzene.

Using Urinary Biomarkers to Estimate the Benzene Exposure Levels in Individuals Exposed to Benzene.

Journal: Toxics

Published: October 11, 2022

The recurrent mutation in RNF220 also causes hypomyelination in China and is a CpG hot spot.

The recurrent mutation in RNF220 also causes hypomyelination in China and is a CpG hot spot.

Journal: Brain : a journal of neurology

Published: July 23, 2022

A rapid and reliable immunochromatographic strip for detecting paraquat poinsoning in domestic water and real human samples.

A rapid and reliable immunochromatographic strip for detecting paraquat poinsoning in domestic water and real human samples.

Journal: Environmental pollution (Barking, Essex : 1987)

Published: July 15, 2022

Showing 1-12 of 49

Last Updated: 09/26/2026