Two novel TMEM67 variations in a Chinese family with recurrent pregnancy loss: a case report by Jialun Pang, Fanjuan Kong, Wanglan Tang, Hui Xi, Na Ma, Xiaoqi Sheng, Ying Peng, Zhiyu Liu

Get full text

Identification of a novel gross deletion of TCOF1 in a Chinese prenatal case with Treacher Collins syndrome by Jing Liu, Pengsiyuan Lin, Jialun Pang, Zhengjun Jia, Ying Peng, Hui Xi, Lingqian Wu, Zhuo Li, Hua Wang

Get full text

Clinical features and genetic analysis of a case series of skeletal ciliopathies in a prenatal setting by Ying Peng, Lin Zhou, Jing Chen, Xiaoliang Huang, Jialun Pang, Jing Liu, Wanglan Tang, Shuting Yang, Changbiao Liang, Wanqin Xie

Get full text

Clinical and molecular characterization of 12 prenatal cases of Cri‐du‐chat syndrome by Ying Peng, Jialun Pang, Jiancheng Hu, Zhengjun Jia, Hui Xi, Na Ma, Shuting Yang, Jing Liu, Xiaoliang Huang, Chengyuan Tang, Hua Wang

Get full text