Mengjun J. Xiao

Henan Provincial Key Laboratory Of Children's Genetics And Developmental Diseases
Zhengzhou, 450018, China

Last Updated: 09/26/2026

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Found 10 publications

Functional identification of two variants in unrelated Chinese patients with DNM1L-related mitochondrial disorders.

Functional identification of two variants in unrelated Chinese patients with DNM1L-related mitochondrial disorders.

Journal: BMC pediatrics

Published: December 22, 2024

Clinical characteristics and genetic analysis of a child with Cantú syndrome due to variant of ABCC9 gene

Clinical characteristics and genetic analysis of a child with Cantú syndrome due to variant of ABCC9 gene

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

Published: September 30, 2024

Hyperprolinemia type Ⅰ caused by PRODH gene variation: 2 cases report and literature review

Hyperprolinemia type Ⅰ caused by PRODH gene variation: 2 cases report and literature review

Journal: Zhonghua er ke za zhi = Chinese journal of pediatrics

Published: October 07, 2023

Genetic analysis of a child with restricted cardiomyopathy and phenylketonuria and a literature review

Genetic analysis of a child with restricted cardiomyopathy and phenylketonuria and a literature review

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

Published: August 02, 2023

A novel variant of DNM1L expanding the clinical phenotypic spectrum: a case report and literature review.

A novel variant of DNM1L expanding the clinical phenotypic spectrum: a case report and literature review.

Journal: BMC pediatrics

Published: July 23, 2023

Clinical characteristics and genetic analysis of a child with Galactosemia due to compound heterozygous variants of GALT gene

Clinical characteristics and genetic analysis of a child with Galactosemia due to compound heterozygous variants of GALT gene

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

Published: June 27, 2023

Analysis of clinical characteristics and ACADM gene variants in four children with Medium chain acyl-CoA dehydrogenase deficiency

Analysis of clinical characteristics and ACADM gene variants in four children with Medium chain acyl-CoA dehydrogenase deficiency

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

Published: June 27, 2023

A case of Charcot-Marie-Tooth disease type 2S caused by mutation of IGHMBP2 gene

A case of Charcot-Marie-Tooth disease type 2S caused by mutation of IGHMBP2 gene

Journal: Zhonghua er ke za zhi = Chinese journal of pediatrics

Published: January 06, 2022

Distal arthrogryposes type 5 caused by PIEZO2 gene variation

Distal arthrogryposes type 5 caused by PIEZO2 gene variation

Journal: Zhonghua er ke za zhi = Chinese journal of pediatrics

Published: October 14, 2021

A case with MPPH3 syndrome caused by a novel variation in CCND2 gene

A case with MPPH3 syndrome caused by a novel variation in CCND2 gene

Journal: Zhonghua er ke za zhi = Chinese journal of pediatrics

Published: March 03, 2021

Showing 1-10 of 10

Last Updated: 09/26/2026