Xuefan Gu

Publication Activity (10 Years)

Years Active: 2019-2022
Publications (10 Years): 5

Top Topics

Autism Spectrum Disorder

Gene Expression

Top Venues

Journal of clinical research in pediatric endocrinology

Journal of clinical laboratory analysis

This page only lists publications with an associated author ORCID identifier.

Publications

Xiaomei Luo, Ying Duan, Di Fang, Yu Sun, Bing Xiao, Huiwen Zhang, Lian-Shu Han, Lili Liang, Zhuwen Gong, Xuefan Gu, Yong-Guo Yu, Wenjuan Qiu
Diagnosis and follow-up of glycogen storage disease (GSD) type VI from the largest GSD center in China. Human mutation 43 (5) (2022)
Jiayue Hu, Gustavo H B Maegawa, Xia Zhan, Xiaolan Gao, Yu Wang, Feng Xu, Wenjuan Qiu, Lian-Shu Han, Xuefan Gu, Huiwen Zhang
Clinical, biochemical, and genotype-phenotype correlations of 118 patients with Niemann-Pick disease Types A/B. Human mutation 42 (5) (2021)
Xiaomin Liu, Guorui Hu, Jun Ye, Bin Ye, Nan Shen, Yue Tao, Xia Zhang, Yanjie Fan, Huili Liu, Zhigang Zhang, Danfeng Fang, Xuefan Gu, Xi Mo, Yong-Guo Yu
De Novo ARID1B mutations cause growth delay associated with aberrant Wnt/β-catenin signaling. Human mutation 41 (5) (2020)
Lili Liang, Jun Ye, Lianshu Han, Wenjuan Qiu, Huiwen Zhang, Yong-Guo Yu, Tianwen Zhu, Feng Xu, Xia Zhan, Peizhong Bao, Wenjun Ji, Xuefan Gu
Examining the blood amino acid status in pretherapeutic patients with hyperphenylalaninemia. Journal of clinical laboratory analysis 34 (3) (2019)
Xia Zhang, Yanjie Fan, Xiaomin Liu, Ming-Ang Zhu, Yu Sun, Hui Yan, Yunjuan He, Xiantao Ye, Xuefan Gu, Yong-Guo Yu
A Novel Nonsense Mutation of PHF6 in a Female with Extended Phenotypes of Borjeson-Forssman-Lehmann Syndrome Journal of clinical research in pediatric endocrinology 11 (4) (2019)