Shujie J. Zhang

No 59, Xiangzhu Road
Nanning, China

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 47 publications

Trends in dietary structure and patterns in urban and rural residents in Guangdong Province, 2002-2022

Trends in dietary structure and patterns in urban and rural residents in Guangdong Province, 2002-2022

Journal: Zhonghua liu xing bing xue za zhi = Zhonghua liuxingbingxue zazhi

Published: July 27, 2026

NSF gene variants cause developmental and epileptic encephalopathy 96: expanding genotype and phenotypic spectrum with prenatal-onset features.

NSF gene variants cause developmental and epileptic encephalopathy 96: expanding genotype and phenotypic spectrum with prenatal-onset features.

Journal: Frontiers in genetics

Published: May 15, 2026

Clinical and genetic analysis of Chinese patients with Leigh syndrome caused by biallelic loss-of-function variants of the NDUFAF6 gene.

Clinical and genetic analysis of Chinese patients with Leigh syndrome caused by biallelic loss-of-function variants of the NDUFAF6 gene.

Journal: Frontiers in neurology

Published: January 21, 2026

Frameshift variants in the UBTF gene are associated with neurodevelopmental disorders.

Frameshift variants in the UBTF gene are associated with neurodevelopmental disorders.

Journal: Clinica chimica acta; international journal of clinical chemistry

Published: October 28, 2025

A novel dinucleotide variant at 5' splice sites in the F8 gene causes exon 19 skipping in a Chinese family with hemophilia A.

A novel dinucleotide variant at 5' splice sites in the F8 gene causes exon 19 skipping in a Chinese family with hemophilia A.

Journal: Frontiers in genetics

Published: August 15, 2025

16p13.11 deletion/duplication: a large cohort study on prenatal diagnosis, postnatal outcomes, and phenotypic manifestations.

16p13.11 deletion/duplication: a large cohort study on prenatal diagnosis, postnatal outcomes, and phenotypic manifestations.

Journal: BMC pregnancy and childbirth

Published: July 06, 2025

Genetic diagnosis and clinical characteristics analysis of cardiospondylocarpofacial syndrome in a Chinese family.

Genetic diagnosis and clinical characteristics analysis of cardiospondylocarpofacial syndrome in a Chinese family.

Journal: Frontiers in pediatrics

Published: June 22, 2025

Heat shock proteins in atrial fibrillation: from bench to bedside.

Heat shock proteins in atrial fibrillation: from bench to bedside.

Journal: Frontiers in physiology

Published: June 11, 2025

Clinical and Molecular Characterization of Five Additional Individuals With SATB2-Associated Syndrome in Guangxi.

Clinical and Molecular Characterization of Five Additional Individuals With SATB2-Associated Syndrome in Guangxi.

Journal: Biochemical genetics

Published: June 09, 2025

Novel variants in STAG2 and PKD1 associate with multiple congenital malformations and autosomal dominant polycystic kidney disease in a Chinese family: A case report and literature review.

Novel variants in STAG2 and PKD1 associate with multiple congenital malformations and autosomal dominant polycystic kidney disease in a Chinese family: A case report and literature review.

Journal: Experimental and therapeutic medicine

Published: June 06, 2025

Clinical and genetic profiles of postnatal patients with skeletal dysplasia in Guangxi during 8 years: a single-center experience.

Clinical and genetic profiles of postnatal patients with skeletal dysplasia in Guangxi during 8 years: a single-center experience.

Journal: Orphanet journal of rare diseases

Published: May 20, 2025

Case Report: Cabezas syndrome caused by CUL4B gene mutations in two unrelated Chinese boys.

Case Report: Cabezas syndrome caused by CUL4B gene mutations in two unrelated Chinese boys.

Journal: Frontiers in neuroscience

Published: May 11, 2025

Showing 1-12 of 47

Last Updated: 09/26/2026