Xuyan Liu

Publication Activity (10 Years)

Years Active: 2022-2024
Publications (10 Years): 8

Top Topics

Binding Protein

Intellectual Disability

Genome Wide Identification

Top Venues

Nephrology (Carlton, Vic.)

Molecular genetics & genomic medicine

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

Publications

Xuyan Liu, Hong Wang, Yiyin Zhang, Ran Zhang, Ruixiao Zhang, Xiaomeng Shi, Fengjiao Pan, Dan Qiao, Qing Xin, Zhiying Liu, Yan Zhang, Changying Li, Yanhua Lang, Leping Shao
A novel heterozygous variant of the SALL1 gene with atypical Townes-Brocks syndrome phenotypes in Chinese family. Nephrology (Carlton, Vic.) 29 (8) (2024)
Xuyan Liu, Hong Wang, Yiyin Zhang, Ran Zhang, Ruixiao Zhang, Xiaomeng Shi, Fengjiao Pan, Dan Qiao, Qing Xin, Zhiying Liu, Yan Zhang, Changying Li, Yanhua Lang, Leping Shao
A novel heterozygous variant of the SALL1 gene with atypical Townes-Brocks syndrome phenotypes in Chinese family. Nephrology (Carlton, Vic.) 29 (8) (2024)
Xuyan Liu, Hong Wang, Yiyin Zhang, Ran Zhang, Ruixiao Zhang, Xiaomeng Shi, Fengjiao Pan, Dan Qiao, Qing Xin, Zhiying Liu, Yan Zhang, Changying Li, Yanhua Lang, Leping Shao
A novel heterozygous variant of the SALL1 gene with atypical Townes-Brocks syndrome phenotypes in Chinese family. Nephrology (Carlton, Vic.) 29 (8) (2024)
Ran Zhang, Yanhua Lang, Xiaomeng Shi, Yiyin Zhang, Xuyan Liu, Fengjiao Pan, Dan Qiao, Xin Teng, Leping Shao
Three exonic variants in the COL4A5 gene alter RNA splicing in a minigene assay. Molecular genetics & genomic medicine 12 (2) (2024)
Xuyan Liu, Hong Wang, Yiyin Zhang, Ran Zhang, Ruixiao Zhang, Xiaomeng Shi, Fengjiao Pan, Dan Qiao, Qing Xin, Zhiying Liu, Yan Zhang, Changying Li, Yanhua Lang, Leping Shao
A novel heterozygous variant of the SALL1 gene with atypical Townes-Brocks syndrome phenotypes in Chinese family. Nephrology (Carlton, Vic.) (2024)
Ran Zhang, Yanhua Lang, Xiaomeng Shi, Yiyin Zhang, Xuyan Liu, Fengjiao Pan, Dan Qiao, Xin Teng, Leping Shao
Three exonic variants in the COL4A5 gene alter RNA splicing in a minigene assay. Molecular genetics & genomic medicine 12 (2) (2024)
Xiaomeng Shi, Hong Wang, Ruixiao Zhang, Zhiying Liu, Wencong Guo, Sai Wang, Xuyan Liu, Yanhua Lang, Irene Bottillo, Bingzi Dong, Leping Shao
Minigene splicing assays reveal new insights into exonic variants of the SLC12A3 gene in Gitelman syndrome. Molecular genetics & genomic medicine (2023)
Wencong Guo, Yingfei Shao, Yanhua Lang, Hong Wang, Yi Lin, Xuyan Liu, Ruixiao Zhang, Leping Shao
Identification of two novel variants of BCS1L gene in a patient with classical GRACILE syndrome. Nephrology (Carlton, Vic.) 27 (10) (2022)