Jiaxin Xue

Qingyuan, 511518, China

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 11 publications

A novel hydroquinone-based chemiluminescent biosensing platform for ultrasensitive sensing of α-glucosidase activity.

A novel hydroquinone-based chemiluminescent biosensing platform for ultrasensitive sensing of α-glucosidase activity.

Journal: Biosensors & bioelectronics

Published: April 01, 2026

Novel LAMA1 Mutations in a Pedigree With Poretti-Boltshauser Syndrome: Implications for Hypomyelination.

Novel LAMA1 Mutations in a Pedigree With Poretti-Boltshauser Syndrome: Implications for Hypomyelination.

Journal: Molecular genetics & genomic medicine

Published: March 14, 2026

Two Atypical Cases of Adams-Oliver Syndrome With DOCK6 Genetic Variants.

Two Atypical Cases of Adams-Oliver Syndrome With DOCK6 Genetic Variants.

Journal: American journal of medical genetics. Part A

Published: December 03, 2025

Prenatal Diagnosis of Fetal Micrognathia at 11-20 Weeks of Gestation: A Prospective Observation Study.

Prenatal Diagnosis of Fetal Micrognathia at 11-20 Weeks of Gestation: A Prospective Observation Study.

Journal: Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine

Published: July 26, 2023

An Innovative Three-Stage Model for Prenatal Genetic Disorder Detection Based on Region-of-Interest in Fetal Ultrasound.

An Innovative Three-Stage Model for Prenatal Genetic Disorder Detection Based on Region-of-Interest in Fetal Ultrasound.

Journal: Bioengineering (Basel, Switzerland)

Published: May 26, 2023

A Deep-Learning-Based Method Can Detect Both Common and Rare Genetic Disorders in Fetal Ultrasound.

A Deep-Learning-Based Method Can Detect Both Common and Rare Genetic Disorders in Fetal Ultrasound.

Journal: Biomedicines

Published: May 09, 2023

A syndrome featuring developmental disorder of the nervous system induced by a novel mutation in the TCF20 gene, rarely concurrent immune disorders: a case report.

A syndrome featuring developmental disorder of the nervous system induced by a novel mutation in the TCF20 gene, rarely concurrent immune disorders: a case report.

Journal: Frontiers in genetics

Published: March 23, 2023

The Two-Stage Ensemble Learning Model Based on Aggregated Facial Features in Screening for Fetal Genetic Diseases.

The Two-Stage Ensemble Learning Model Based on Aggregated Facial Features in Screening for Fetal Genetic Diseases.

Journal: International journal of environmental research and public health

Published: December 16, 2022

Case Report: Early diagnosis of lethal multiple pterygium syndrome with micrognathia: Two novel mutations in the CHRND gene.

Case Report: Early diagnosis of lethal multiple pterygium syndrome with micrognathia: Two novel mutations in the CHRND gene.

Journal: Frontiers in genetics

Published: July 28, 2022

Case report: A novel mosaic nonsense mutation of PCDH19 in a Chinese male with febrile epilepsy.

Case report: A novel mosaic nonsense mutation of PCDH19 in a Chinese male with febrile epilepsy.

Journal: Frontiers in neurology

Published: July 13, 2022

Prenatal Diagnosis of Fetus With Transaldolase Deficiency Identifies Compound Heterozygous Variants: A Case Report.

Prenatal Diagnosis of Fetus With Transaldolase Deficiency Identifies Compound Heterozygous Variants: A Case Report.

Journal: Frontiers in genetics

Published: August 02, 2021

Showing 1-11 of 11

Last Updated: 09/26/2026