Xu Yang

发表

Mutation analysis of the ATP7B gene and genotype–phenotype correlation in Chinese patients with Wilson disease

Mingming Li, Jing Ma, Wenlong Wang, 2021, BMC Gastroenterology.

Mutation analysis of the ATP7B gene and genotype–phenotype correlation in Chinese patients with Wilson disease

Jing Ma, Wenlong Wang, Xu Yang, 2021, BMC Gastroenterology.

Mutational analysis of ATP7B in Chinese Wilson disease patients.

J. Niu, Xu Yang, Rui Hua, 2016, American journal of translational research.

Diagnosis and management of fulminant Wilson’s disease: a single center’s experience

Xu Yang, G. Gong, Feng Peng, 2016, World Journal of Pediatrics.

Severe sensory neuropathy in patients with adult-onset multiple acyl-CoA dehydrogenase deficiency

Dan-hua Zhao, H. Lv, Wei Zhang, 2016, Neuromuscular Disorders.

Biallelic mutations in PLA2G5, encoding group V phospholipase A2, cause benign fleck retina.

G. Holder, V. Plagnol, P. Sergouniotis, 2011, American journal of human genetics.

Encoding Group V Phospholipase A 2 , Cause Benign Fleck Retina

G. Holder, V. Plagnol, P. Sergouniotis, 2011 .

The optimal threshold of serum ceruloplasmin in the diagnosis of Wilson’s disease: A large hospital-based study

Yongfang Jiang, Xu Yang, R. Xu, 2018, PloS one.

Recessive mutations in KCNJ13, encoding an inwardly rectifying potassium channel subunit, cause leber congenital amaurosis.

V. Plagnol, P. Sergouniotis, A. Webster, 2011, American journal of human genetics.

Idetification of CACNA1B (p.K567R) mutation responsible for familiar AVNRT

Xiushan Wu, Zhenglin Yang, Xu Yang, 2022, medRxiv.