Xiaohong Li

发表

Analysis of genotype–phenotype relationships in 90 Chinese probands with Waardenburg syndrome

Xue Gao, Guo-jian Wang, Yongyi Yuan, 2021, Human genetics.

Molecular diagnose of a large hearing loss population from China by targeted genome sequencing

Yang Wang, Quanfei Huang, Zongfu Cao, 2022, Journal of Human Genetics.

Imaging features, staging system, and surgical management of giant cell lesions of the temporal bone

J Zhang, N. Wu, Guo-jian Wang, 2022, Acta oto-laryngologica.

Quantitative assessment of low-level parental mosaicism of SNVs and CNVs in Waardenburg syndrome

Guo-jian Wang, Yongyi Yuan, Shasha Huang, 2022, Human Genetics.

Analysis of genotype–phenotype relationships in 90 Chinese probands with Waardenburg syndrome

Xue Gao, Guo-jian Wang, Yongyi Yuan, 2021, Human Genetics.

Skewed X-chromosome inactivation and next-generation sequencing to identify a novel SMPX variants associated with X-linked hearing loss in a Chinese family.

Xue Gao, Guo-jian Wang, Yongyi Yuan, 2018, International journal of pediatric otorhinolaryngology.

Gene4HL: An Integrated Genetic Database for Hearing Loss

X. Wang, Kuokuo Li, Guihu Zhao, 2021, Frontiers in Genetics.

Multiple synostoses syndrome: Clinical report and retrospective analysis

W. Lu, Yongyi Yuan, Shasha Huang, 2020, American journal of medical genetics. Part A.

Genotype-phenotype variability in Chinese cases of Treacher Collins syndrome

Yongyi Yuan, Shasha Huang, P. Dai, 2019, Acta oto-laryngologica.

Detecting novel mutations and combined Klinefelter syndrome in Usher syndrome cases

Yongyi Yuan, Shasha Huang, P. Dai, 2019, Acta oto-laryngologica.

Retrospective study of Langerhans cell histiocytosis in ear, nose and neck.

Guo-jian Wang, Yongyi Yuan, P. Dai, 2019, American journal of otolaryngology.