Qinghua Zhang

发表

Detailed pedigree analyses and prenatal diagnosis for a family with mucopolysaccharidosis type II

Zongfu Cao, L. Hui, Chuan Zhang, 2021, BMC medical genomics.

Maternal UPD of chromosome 7 in a patient with Silver‐Russell syndrome and Pendred syndrome

Zongfu Cao, Xu Ma, Chuan Zhang, 2020, Journal of clinical laboratory analysis.

Case Report: A Novel De Novo Missense Mutation of the GRIA2 Gene in a Chinese Case of Neurodevelopmental Disorder With Language Impairment

Weiyue Gu, Chuan Zhang, S. Hao, 2021, Frontiers in Genetics.

The Mutation Analysis of the AMT Gene in a Chinese Family With Nonketotic Hyperglycinemia

Zhongfeng Ding, L. Hui, Chuan Zhang, 2022, Frontiers in Genetics.

Mutation Analysis of 63 Northwest Chinese Probands with Oculocutaneous Albinism

Zongfu Cao, Xu Ma, Z. Chuan, 2020, Current eye research.

Mutation analysis of TCOF1 gene in Chinese Treacher Collins syndrome patients

Zongfu Cao, Cuixia Chen, Xu Ma, 2020, Journal of clinical laboratory analysis.

Identification of a novel ANK1 mutation in hereditary spherocytosis co‐existing with BWS

X. Wang, Chuan Zhang, Zhaoyan Meng, 2022, Molecular genetics & genomic medicine.

Mutation analysis, treatment and prenatal diagnosis of Chinese cases of methylmalonic acidemia

Zongfu Cao, Cuixia Chen, Xu Ma, 2020, Scientific Reports.

Expanded Noninvasive Prenatal Testing for Chromosomal aneuploidies and Copy Number Variants in a Cohort of 16128 Single Pregnancies

S. Hao, Xing Wang, Lei Zheng, 2021 .

The spectrum of phenylalanine hydroxylase variants and genotype–phenotype correlation in phenylketonuria patients in Gansu, China

Zongfu Cao, Xu Ma, Yousheng Yan, 2023, Human Genomics.

Identification of deep intronic variants of PAH in phenylketonuria using full-length gene sequencing

Zongfu Cao, Xu Ma, Yousheng Yan, 2023, Orphanet Journal of Rare Diseases.

A novel LOXHD1 variant in a Chinese couple with hearing loss

Xiaojuan Lin, Yousheng Yan, Chuan Zhang, 2019, The Journal of international medical research.

Evaluation of the clinical effects of non‐invasive prenatal screening for diseases associated with aneuploidy and copy number variation

S. Hao, Xing Wang, Qinghua Zhang, 2023, Molecular genetics & genomic medicine.

Immune skeletal dysplasia with neurodevelopmental abnormalities caused by a novel variant of EXTL3 gene in a Chinese family

Chuan Zhang, S. Hao, Xue Chen, 2023, Molecular genetics & genomic medicine.