Phenotypes of Cornelia de Lange syndrome caused by non-cohesion genes: Novel variants and literature review

por Shangguan, Huakun, Chen, Ruimin
Publicado 2022

Kabuki syndrome: novel pathogenic variants, new phenotypes and review of literature

por Shangguan, Huakun, Su, Chang, Ouyang, Qian, Cao, Bingyan, Wang, Jian, Gong, Chunxiu, Chen, Ruimin
Publicado 2019

Clinical and genetic analysis of two Chinese families with vitamin D-dependent rickets type IA and follow-up

por Li, Yunfei, Yuan, Xin, Chen, Ruimin, Lin, Xiangquan, Shangguan, Huakun, Yang, Xiaohong, Zhang, Ying
Publicado 2020