Qinghua Zhang
Lanzhou, 730050, China
Last Updated: 09/26/2026
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Found 11 publications
Clinical features and GCDH gene variants in three Chinese families with glutaric aciduria type 1: A case series and literature review.
Journal: Molecular genetics and metabolism reports
Published: April 15, 2024
Genetic analysis of eighteen patients from Gansu Province with Tetrahydrobiopterin deficiency
Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: February 04, 2024
Immune skeletal dysplasia with neurodevelopmental abnormalities caused by a novel variant of EXTL3 gene in a Chinese family.
Journal: Molecular genetics & genomic medicine
Published: April 13, 2023
Identification of deep intronic variants of PAH in phenylketonuria using full-length gene sequencing.
Journal: Orphanet journal of rare diseases
Published: January 04, 2023
The spectrum of phenylalanine hydroxylase variants and genotype-phenotype correlation in phenylketonuria patients in Gansu, China.
Journal: Human genomics
Published: December 01, 2022
Three Variants Affecting Exon 1 of Ectodysplasin A Cause X-Linked Hypohidrotic Ectodermal Dysplasia: Clinical and Molecular Characteristics.
Journal: Frontiers in genetics
Published: April 09, 2022
Evaluation of the clinical effects of non-invasive prenatal screening for diseases associated with aneuploidy and copy number variation.
Journal: Molecular genetics & genomic medicine
Published: March 14, 2022
Genetic and Phenotype Analysis of a Chinese Cohort of Infants and Children With Epilepsy.
Journal: Frontiers in genetics
Published: February 04, 2022
Case Report: A Novel De Novo Missense Mutation of the GRIA2 Gene in a Chinese Case of Neurodevelopmental Disorder With Language Impairment.
Journal: Frontiers in genetics
Published: October 14, 2021
The mutation analysis of PAH gene and prenatal diagnosis in classical phenylketonuria family
Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: December 03, 2014
Deep eutectic solvents as novel extraction media for phenolic compounds from model oil.
Journal: Chemical communications (Cambridge, England)
Published: August 22, 2014
Showing 1-11 of 11
Last Updated: 09/26/2026