Chuan 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.

Compound heterozygous variants of the FBXO7 gene resulting in infantile‐onset Parkinsonian‐pyramidal syndrome in siblings of a Chinese family

Xu Ma, Qian Liu, Yousheng Yan, 2020, Journal of clinical laboratory analysis (Print).

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

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

Screening of PAH Common Mutations in Chinese Phenylketonuria Patients Using iPLEX MALDI-TOF MS

Xu Ma, Yousheng Yan, Chuan Zhang, 2020, ACS omega.

Case Report: A Novel GJB2 Missense Variant Inherited From the Low-Level Mosaic Mother in a Chinese Female With Palmoplantar Keratoderma With Deafness

Chuan Zhang, S. Hao, Xue Chen, 2022, Frontiers in Genetics.

Evaluation of droplet digital PCR for non-invasive prenatal diagnosis of phenylketonuria

Xu Ma, F. Wang, Yousheng Yan, 2019, Analytical and Bioanalytical Chemistry.

Mutation spectrum of PAH gene in phenylketonuria patients in Northwest China: identification of twenty novel variants

Yousheng Yan, Chuan Zhang, S. Hao, 2019, Metabolic Brain Disease.

Mutation spectrum of PAH gene in phenylketonuria patients in Northwest China: identification of twenty novel variants

Xu Ma, Yousheng Yan, Chuan Zhang, 2019, Metabolic Brain Disease.

Identification of novel deep intronic PAH gene variants in patients diagnosed with phenylketonuria

C. Yin, Xu Ma, Linlin Zhang, 2021, Human mutation.

Mutation analysis of TCOF1 gene in Chinese Treacher Collins syndrome patients

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

Variant analysis of 92 Chinese Han families with hearing loss

Xu Ma, Shasha Huang, P. Dai, 2022, BMC medical genomics.

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

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

Clinical and molecular analysis of a Chinese family with autosomal dominant neurohypophyseal diabetes insipidus associated with a novel missense mutation in the vasopressin–neurophysin II gene

Binbin Wang, Xu Ma, Yakun Zhao, 2012, Endocrine.

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

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

[Wiedemann-Steiner syndrome due to novel nonsense variant of KMT2A gene in a case].

Zongfu Cao, Chuan Zhang, H. Xue, 2021, Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics.

ATP9A deficiency causes ADHD and aberrant endosomal recycling via modulating RAB5 and RAB11 activity

H. Liu, Huansen Huang, Haixia Zhuang, 2023, Molecular Psychiatry.

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.

Random forest classifier improving phenylketonuria screening performance in two Chinese populations

Zongfu Cao, Xu Ma, Dan-yan Zhuang, 2022, Frontiers in Molecular Biosciences.

Novel de novo mutation in ZBTB20 in a Chinese Primrose syndrome family and a review of the literature.

Chuan Zhang, S. Hao, Zhaoyan Meng, 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.