Hong-wei Ma

Shenyang, 110004, China

Last Updated: 09/26/2026

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Found 14 publications

Novel compound heterozygous variants in the TAF6 gene in a patient with Alazami-Yuan syndrome: A case report.

Novel compound heterozygous variants in the TAF6 gene in a patient with Alazami-Yuan syndrome: A case report.

Journal: World journal of clinical cases

Published: July 15, 2021

Clinical features and C12orf65 mutations of autosomal recessive spastic paraplegia-55: a case report

Clinical features and C12orf65 mutations of autosomal recessive spastic paraplegia-55: a case report

Journal: Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics

Published: November 23, 2019

NIPBL gene mutations in two children with Cornelia de Lange syndrome

NIPBL gene mutations in two children with Cornelia de Lange syndrome

Journal: Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics

Published: May 17, 2018

Schinzel-Giedion syndrome: a novel case, review and revised diagnostic criteria.

Schinzel-Giedion syndrome: a novel case, review and revised diagnostic criteria.

Journal: Journal of genetics

Published: April 19, 2018

Relationship of genotypes with clinical phenotypes and outcomes in children with cobalamin C type combined methylmalonic aciduria and homocystinuria

Relationship of genotypes with clinical phenotypes and outcomes in children with cobalamin C type combined methylmalonic aciduria and homocystinuria

Journal: Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics

Published: August 20, 2015

CNTNAP2 Is Significantly Associated With Speech Sound Disorder in the Chinese Han Population.

CNTNAP2 Is Significantly Associated With Speech Sound Disorder in the Chinese Han Population.

Journal: Journal of child neurology

Published: December 17, 2014

Rickets-like genetic diseases

Rickets-like genetic diseases

Journal: Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics

Published: November 16, 2013

Clinical analysis and genetic diagnosis of short-limb inherited short stature diseases in children

Clinical analysis and genetic diagnosis of short-limb inherited short stature diseases in children

Journal: Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics

Published: November 16, 2013

Gene mutation analysis of X-linked hypophosphatemic rickets

Gene mutation analysis of X-linked hypophosphatemic rickets

Journal: Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics

Published: November 16, 2013

Clinical application of M-CHAT and CHAT-23 for autism screening

Clinical application of M-CHAT and CHAT-23 for autism screening

Journal: Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics

Published: December 14, 2012

Gene diagnosis of alkaptonuria in an infant

Gene diagnosis of alkaptonuria in an infant

Journal: Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics

Published: October 25, 2012

Molecular genetics of functional articulation disorder in children

Molecular genetics of functional articulation disorder in children

Journal: Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics

Published: April 28, 2012

Showing 1-12 of 14

Last Updated: 09/26/2026