Exome sequencing identifies a de novo mutation of CTNNB1 gene in a patient mainly presented with retinal detachment, lens and vitreous opacities, microcephaly, and developmental de...

Por Li, Niu, Xu, Yufei, Li, Guoqiang, Yu, Tingting, Yao, Ru-en, Wang, Xiumin, Wang, Jian
Publicado no Medicine (Baltimore) (2017)

De novo mutations in ARID1B associated with both syndromic and non-syndromic short stature

Por Yu, Yongguo, Yao, RuEn, Wang, Lili, Fan, Yanjie, Huang, Xiaodong, Hirschhorn, Joel, Dauber, Andrew, Shen, Yiping
Publicado no BMC Genomics (2015)

Copy number variations in 119 Chinese children with idiopathic short stature identified by the custom genome-wide microarray

Por Hu, Guorui, Fan, Yanjie, Wang, Lili, Yao, Ru-en, Huang, Xiaodong, Shen, Yiping, Yu, Yongguo, Gu, Xuefan
Publicado no Mol Cytogenet (2016)

Screening for Coding Variants in FTO and SH2B1 Genes in Chinese Patients with Obesity

Por Zheng, Zhaojing, Hong, Li, Huang, Xiaodong, Yang, Peirong, Li, Juan, Ding, Yu, Yao, Ru-en, Geng, Juan, Shen, Yongnian, Shen, Yiping, Fu, Qihua, Yu, Yongguo
Publicado em 2013

A New Subtype of Multiple Synostoses Syndrome Is Caused by a Mutation in GDF6 That Decreases Its Sensitivity to Noggin and Enhances Its Potency as a BMP Signal

Por Wang, Jian, Yu, Tingting, Wang, Zhigang, Ohte, Satoshi, Yao, Ru-en, Zheng, Zhaojing, Geng, Juan, Cai, Haiqing, Ge, Yihua, Li, Yuchan, Xu, Yunlan, Zhang, Qinghua, Gusella, James F, Fu, Qihua, Pregizer, Steven, Rosen, Vicki, Shen, Yiping
Publicado no J Bone Miner Res (2015)

Description of the molecular and phenotypic spectrum of Wiedemann-Steiner syndrome in Chinese patients

Por Li, Niu, Wang, Yirou, Yang, Yu, Wang, Pengpeng, Huang, Hui, Xiong, Shiyi, Sun, Luming, Cheng, Min, Song, Cui, Cheng, Xinran, Ding, Yu, Chang, Guoying, Chen, Yao, Xu, Yufei, Yu, Tingting, Yao, Ru-en, Shen, Yiping, Wang, Xiumin, Wang, Jian
Publicado no Orphanet J Rare Dis (2018)