Whole Genome Sequencing Identifies Novel Compound Heterozygous Lysosomal Trafficking Regulator Gene Mutations Associated with Autosomal Recessive Chediak-Higashi Syndrome

Bằng Jin, Yaqiong, Zhang, Li, Wang, Senfen, Chen, Feng, Gu, Yang, Hong, Enyu, Yu, Yongbo, Ni, Xin, Guo, Yongli, Shi, Tieliu, Xu, Zigang
Xuất bản năm Sci Rep (2017)

Two novel mutations of PAX3 and SOX10 were characterized as genetic causes of Waardenburg Syndrome

Bằng Yu, Yongbo, Liu, Wei, Chen, Min, Yang, Yang, Yang, Yeran, Hong, Enyu, Lu, Jie, Zheng, Jun, Ni, Xin, Guo, Yongli, Zhang, Jie
Xuất bản năm Mol Genet Genomic Med (2020)

Two Compound Heterozygous Were Identified in SLC26A4 Gene in Two Chinese Families With Enlarged Vestibular Aqueduct

Bằng Yu, Yongbo, Yang, Yang, Lu, Jie, Jin, Yaqiong, Yang, Yeran, Hong, Enyu, Shi, Jin, Chen, Feng, Han, Shujing, Chu, Ping, Guo, Yongli, Ni, Xin
Xuất bản năm Clin Exp Otorhinolaryngol (2019)