Zi-yan Xu

Fuzhou, China

Last Updated: 09/26/2026

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Found 13 publications

Clinical and genetic analysis of Liver-Predominant ornithine transcarbamylase deficiency caused by a novel de novo OTC sequence variant in a female child.

Clinical and genetic analysis of Liver-Predominant ornithine transcarbamylase deficiency caused by a novel de novo OTC sequence variant in a female child.

Journal: Gene
Published: May 02, 2026

Association Between Dietary Magnesium Intake and All-Cause Mortality in Patients with Chronic Kidney Disease: Insights from NHANES 1999-2018.

Association Between Dietary Magnesium Intake and All-Cause Mortality in Patients with Chronic Kidney Disease: Insights from NHANES 1999-2018.

Journal: Clinical medicine (London, England)
Published: March 30, 2026

Phosphoproteomics elucidates the functional impact of the PTPN11 p.Asn308Ser variant in a Noonan syndrome pedigree.

Phosphoproteomics elucidates the functional impact of the PTPN11 p.Asn308Ser variant in a Noonan syndrome pedigree.

Journal: Journal of chromatography. B, Analytical technologies in the biomedical and life sciences
Published: November 24, 2025

Clinical and genetic analysis of an early-onset sitosterolemia family caused by a novel compound heterozygous ABCG5 mutation.

Clinical and genetic analysis of an early-onset sitosterolemia family caused by a novel compound heterozygous ABCG5 mutation.

Journal: Journal of chromatography. B, Analytical technologies in the biomedical and life sciences
Published: October 25, 2025

De novo PKD1 splicing and missense variants in two familial ADPKD: Molecular characterization and genetic counseling implications.

De novo PKD1 splicing and missense variants in two familial ADPKD: Molecular characterization and genetic counseling implications.

Journal: Gene
Published: October 10, 2025

Under the dual hit: genetic and phenotypic analysis of a Han family with severe adolescent cirrhosis from the convergence of Wilson's disease and favism.

Under the dual hit: genetic and phenotypic analysis of a Han family with severe adolescent cirrhosis from the convergence of Wilson's disease and favism.

Journal: Gene
Published: September 24, 2025

A de novo INSR variant in Type A insulin resistance syndrome: familial investigation and genetic implications.

A de novo INSR variant in Type A insulin resistance syndrome: familial investigation and genetic implications.

Journal: Gene
Published: September 01, 2025

Genetic analysis of a family with skeletal muscle ion channelopathy and hereditary spastic paraplegia type 7 caused by SCN4A and SPG7 double mutations.

Genetic analysis of a family with skeletal muscle ion channelopathy and hereditary spastic paraplegia type 7 caused by SCN4A and SPG7 double mutations.

Journal: Gene
Published: July 14, 2025

Differential genetic analysis of ectrodactyly in a Fanconi anemia pedigree with FANCA mutations.

Differential genetic analysis of ectrodactyly in a Fanconi anemia pedigree with FANCA mutations.

Journal: MedScience
Published: June 17, 2025

Fasudil targets the RhoA/ROCK-NLRP3 axis to attenuate aristolochic acid-induced renal pyroptosis: translational validation by in vivo molecular imaging.

Fasudil targets the RhoA/ROCK-NLRP3 axis to attenuate aristolochic acid-induced renal pyroptosis: translational validation by in vivo molecular imaging.

Journal: International immunopharmacology
Published: June 14, 2025

Genetic analysis of a novel TSC1 splice mutation causing tuberous sclerosis without neurological phenotypes.

Genetic analysis of a novel TSC1 splice mutation causing tuberous sclerosis without neurological phenotypes.

Journal: Scientific reports
Published: December 28, 2024

Clinical genetic analysis of an adult polyglucosan body disease (APBD) family caused by the compound heterozygous variant of GBE1 p.R156C and deletion exon 3-7.

Clinical genetic analysis of an adult polyglucosan body disease (APBD) family caused by the compound heterozygous variant of GBE1 p.R156C and deletion exon 3-7.

Journal: Frontiers in genetics
Published: October 22, 2024
Showing 1-12 of 13

Last Updated: 09/26/2026