Severe congenital microcephaly with 16p13.11 microdeletion combined with NDE1 mutation, a case report and literature review

by Li Tan, Bo Bi, Peiwei Zhao, Xiaonan Cai, Chunhui Wan, Jianbo Shao, Xuelian He
Published 2017-12-01

Association of mTOR polymorphisms with cancer risk and clinical outcomes: a meta-analysis.

by Jianbo Shao, Ying Li, Peiwei Zhao, Xin Yue, Jun Jiang, Xiaohui Liang, Xuelian He
Published 2014-01-01

Novel MTR compound-heterozygous mutations in a Chinese girl with HHcy due to methionine synthase deficiency, cblG: a case report

by Juan Luo, Xiaohong Chen, Hongxi Guo, Peiwei Zhao, Hui Yao, Lifang Feng, Luhong Yang
Published 2024-01-01

Suppression of mitochondrial complex I influences cell metastatic properties.

by Xuelian He, Aifen Zhou, Hao Lu, Yong Chen, Guochang Huang, Xin Yue, Peiwei Zhao, Yanxiang Wu
Published 2013-01-01

Genetic analysis and prenatal diagnosis in a Chinese with growth retardation, abnormal liver function, and microcephaly

by Peiwei Zhao, Lei Zhang, Li Tan, Sukun Luo, Yufeng Huang, Hanming Peng, Jiangxia Cao, Xuelian He
Published 2021-09-01

Correction: Suppression of Mitochondrial Complex I Influences Cell Metastatic Properties.

by Xuelian He, Aifen Zhou, Hao Lu, Yong Chen, Guochang Huang, Xin Yue, Peiwei Zhao, Yanxiang Wu
Published 2024-01-01

A novel variant in the HX repeat motif of ATN1 in a Chinese patient with CHEDDA syndrome and literature review

by Sukun Luo, Yanqiu Hu, Ping Xiong, Li Tan, Peiwei Zhao, Yufeng Huang, Cuiping Xiao, Hongmin Zhu, Xuelian He
Published 2022-12-01

Infantile‐onset CMT2D/dSMA‐V in a Chinese family with parental germline mosaicism for a novel mutation in the GARS1 gene

by Yufeng Huang, Bo Bi, Peiwei Zhao, Ting Yu, Sukun Luo, Li Tan, Zhisheng Liu, Jie Liu, Xuelian He
Published 2022-01-01

Three de novo variants in KMT2A (MLL) identified by whole exome sequencing in patients with Wiedemann–Steiner syndrome

by Sukun Luo, Bo Bi, Wenqian Zhang, Rui Zhou, Wei Chen, Peiwei Zhao, Yufeng Huang, Li Yuan, Xuelian He
Published 2021-10-01

Functional Analysis of a Novel CLN5 Mutation Identified in a Patient With Neuronal Ceroid Lipofuscinosis

by Sukun Luo, Bo Bi, Baiqi Zhu, Li Tan, Peiwei Zhao, Yufeng Huang, Gefei Wu, Aifeng Zhou, Xuelian He
Published 2020-09-01

Corrigendum: Identification of the first congenital ichthyosis case caused by a homozygous deletion in the ALOX12B gene due to chromosome 17 mixed uniparental disomy

by Lei Zhang, Yanqiu Hu, Jingjing Lu, Peiwei Zhao, Xiankai Zhang, Li Tan, Jun Li, Cuiping Xiao, Linkong Zeng, Xuelian He
Published 2022-10-01

Identification of the first congenital ichthyosis case caused by a homozygous deletion in the ALOX12B gene due to chromosome 17 mixed uniparental disomy

by Lei Zhang, Yanqiu Hu, Jingjing Lu, Peiwei Zhao, Xiankai Zhang, Li Tan, Jun Li, Cuiping Xiao, Linkong Zeng, Xuelian He
Published 2022-08-01

A 9‐month‐old Chinese patient with Gabriele‐de Vries syndrome due to novel germline mutation in the YY1 gene

by Li Tan, Ying Li, Fan Liu, Yufeng Huang, Sukun Luo, Peiwei Zhao, Weiyue Gu, Jun Lin, Aifen Zhou, Xuelian He
Published 2021-02-01

Identification and Characterization of a Germline Mutation in CARD11 From a Chinese Case of B Cell Expansion With NF-κB and T Cell Anergy

by Peiwei Zhao, Qingjie Meng, Yufeng Huang, Lei Zhang, Sukun Luo, Xiankai Zhang, Li Tan, Aifen Zhou, Hao Xiong, Xuelian He
Published 2021-09-01

Identification and characterization of a new variation in DPM2 gene in two Chinese siblings with mild intellectual impairment

by Peiwei Zhao, Yanqiu Hu, Juan Hu, Cheng Li, Yufeng Huang, Lei Zhang, Sukun Luo, Hongmin Zhu, Jun Jiang, Xuelian He
Published 2023-04-01

A novel CARD11 germline mutation in a Chinese patient of B cell expansion with NF-κB and T cell anergy (BENTA) and literature review

by Peiwei Zhao, Yanqiu Hu, Dongming Sun, Qingjie Meng, Lei Zhang, Xiankai Zhang, Li Tan, Yong Zhang, Yan Ding, Xuelian He
Published 2022-09-01

Higher Serum Angiotensinogen Is an Indicator of IgA Vasculitis with Nephritis Revealed by Comparative Proteomes Analysis.

by Xuelian He, Wei Yin, Yan Ding, Shu-jian Cui, Jiangwei Luan, Peiwei Zhao, Xin Yue, Chunhua Yu, Xiaohui Laing, YuLan Zhao
Published 2015-01-01

Activated phosphoinositide 3-kinase δ syndrome caused by PIK3CD mutations: expanding the phenotype

by Peiwei Zhao, Juan Huang, Huicong Fu, Jiali Xu, Tianhong Li, Xiankai Zhang, Qingjie Meng, Lei Zhang, Li Tan, Wen Zhang, Hebin Chen, Xiaoxia Lu, Yan Ding, Xuelian He
Published 2024-01-01