Xuan Feng

发表

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.

A Novel Heterozygous Missense Variant in YWHAG Gene Cause Early-Onset Epilepsy in a Chinese Family

Zhenfeng Song, Z. Yi, H. Pan, 2020 .

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.

A heterozygous missense variant in the YWHAG gene causing developmental and epileptic encephalopathy 56 in a Chinese family

Fei Li, Zhenfeng Song, Z. Yi, 2022, BMC Medical Genomics.

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

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

Mutation Analysis of 63 Northwest Chinese Probands with Oculocutaneous Albinism

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

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.

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.

Screening of the FUS gene in familial and sporadic amyotrophic lateral sclerosis patients of Chinese origin

Z. Zou, L. Cui, Y. Peng, 2012, European journal of neurology.