Xiaowei Xu

Tianjin, China

Last Updated: 09/26/2026

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Found 19 publications

Experimental insights into MMACHC variants using a novel minigene system.

Experimental insights into MMACHC variants using a novel minigene system.

Journal: Molecular genetics and metabolism

Published: September 12, 2025

A rare ACAN non-canonical splicing-site intron variant results in familial short stature.

A rare ACAN non-canonical splicing-site intron variant results in familial short stature.

Journal: Gene

Published: December 20, 2023

Correction: Prader-Willi syndrome patient with atypical phenotypes caused by mosaic deletion in the paternal 15q11-q13 region: a case report.

Correction: Prader-Willi syndrome patient with atypical phenotypes caused by mosaic deletion in the paternal 15q11-q13 region: a case report.

Journal: Italian journal of pediatrics

Published: March 21, 2023

A novel MMUT splicing variant causing mild methylmalonic acidemia phenotype.

A novel MMUT splicing variant causing mild methylmalonic acidemia phenotype.

Journal: Heliyon

Published: February 09, 2023

Prader-Willi syndrome patient with atypical phenotypes caused by mosaic deletion in the paternal 15q11-q13 region: a case report.

Prader-Willi syndrome patient with atypical phenotypes caused by mosaic deletion in the paternal 15q11-q13 region: a case report.

Journal: Italian journal of pediatrics

Published: September 01, 2022

Single nucleotide polymorphisms of PCP pathway related genes participate in the occurrence and development of neural tube defect.

Single nucleotide polymorphisms of PCP pathway related genes participate in the occurrence and development of neural tube defect.

Journal: Molecular genetics & genomic medicine

Published: July 18, 2022

Analysis of a child with severe combined immunodeficiency due to variants of DCLRE1C gene

Analysis of a child with severe combined immunodeficiency due to variants of DCLRE1C gene

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

Published: July 10, 2022

Analysis of gene variant in an infant with succinic semialdehyde dehydrogenase deficiency

Analysis of gene variant in an infant with succinic semialdehyde dehydrogenase deficiency

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

Published: January 25, 2022

Genetic analysis of 46,XY disorders of sex development in children caused by a new NR5A1 gene variant

Genetic analysis of 46,XY disorders of sex development in children caused by a new NR5A1 gene variant

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

Published: November 03, 2021

A de novo variant in CASK gene causing intellectual disability and brain hypoplasia: a case report and literature review.

A de novo variant in CASK gene causing intellectual disability and brain hypoplasia: a case report and literature review.

Journal: Italian journal of pediatrics

Published: March 10, 2021

Analysis of gene variant in a Chinese child affected with dihydropyrimidinase deficiency

Analysis of gene variant in a Chinese child affected with dihydropyrimidinase deficiency

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

Published: November 12, 2020

Genetic analysis of a child with very long chain acyl-CoA dehydrogenase deficiency

Genetic analysis of a child with very long chain acyl-CoA dehydrogenase deficiency

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

Published: August 21, 2020

Showing 1-12 of 19

Last Updated: 09/26/2026