Bixia X. Zheng

72 Guangzhou Road
Nanjing, 210008, China

Last Updated: 09/26/2026

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Found 87 publications

Novel PAX2 variants and phenotypic heterogeneity in pediatric kidney disease: a single-center retrospective study.

Novel PAX2 variants and phenotypic heterogeneity in pediatric kidney disease: a single-center retrospective study.

Journal: Pediatric nephrology (Berlin, Germany)

Published: March 17, 2026

Clinical and molecular characterization of TCF12 variants in an Asian pediatric cohort with craniosynostosis.

Clinical and molecular characterization of TCF12 variants in an Asian pediatric cohort with craniosynostosis.

Journal: BMC medical genomics

Published: February 23, 2026

WDTC1 Haploinsufficiency as a Cause of Neurodevelopmental Phenotypes.

WDTC1 Haploinsufficiency as a Cause of Neurodevelopmental Phenotypes.

Journal: Clinical genetics

Published: January 06, 2026

Phenotypic Characterization and rhGH Therapeutic Response in ACAN Children with Short Stature: A Real-World Study.

Phenotypic Characterization and rhGH Therapeutic Response in ACAN Children with Short Stature: A Real-World Study.

Journal: Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists

Published: January 05, 2026

Rare Biallelic CTU2 Variants in an Individual With CAKUT: Clinical Characterization and Minigene Splicing Analysis.

Rare Biallelic CTU2 Variants in an Individual With CAKUT: Clinical Characterization and Minigene Splicing Analysis.

Journal: Molecular genetics & genomic medicine

Published: December 31, 2025

Phenotypic and genotypic analysis of pediatric nephronophthisis patients with different levels of proteinuria.

Phenotypic and genotypic analysis of pediatric nephronophthisis patients with different levels of proteinuria.

Journal: Renal failure

Published: December 16, 2025

Inactivating GNAS variants impair GPCR signaling and cause multiple suture craniosynostosis in humans and zebrafish.

Inactivating GNAS variants impair GPCR signaling and cause multiple suture craniosynostosis in humans and zebrafish.

Journal: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research

Published: June 11, 2025

Age at disease onset and risk of chronic kidney disease in patients with heterozygous disease-causing variants in COL4A3 and COL4A4.

Age at disease onset and risk of chronic kidney disease in patients with heterozygous disease-causing variants in COL4A3 and COL4A4.

Journal: Clinical kidney journal

Published: May 21, 2025

De novo missense variants in BAIAP2 are associated with developmental and epileptic encephalopathies.

De novo missense variants in BAIAP2 are associated with developmental and epileptic encephalopathies.

Journal: Epilepsia

Published: April 29, 2025

Generation of human induced pluripotent stem cell lines derived from a patient carrying an intragenic deletion in the NFIA gene.

Generation of human induced pluripotent stem cell lines derived from a patient carrying an intragenic deletion in the NFIA gene.

Journal: Human cell

Published: January 24, 2025

A comprehensive splicing characterization of COL4A5 mutations and prognostic significance in a single cohort with X-linked alport syndrome.

A comprehensive splicing characterization of COL4A5 mutations and prognostic significance in a single cohort with X-linked alport syndrome.

Journal: Frontiers in genetics

Published: January 21, 2025

Genetic Insights Into Craniosynostosis: Identification of Novel IL11RA Variants in Chinese Pediatric Patients.

Genetic Insights Into Craniosynostosis: Identification of Novel IL11RA Variants in Chinese Pediatric Patients.

Journal: Molecular genetics & genomic medicine

Published: January 17, 2025

Showing 1-12 of 87

Last Updated: 09/26/2026