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 2017

Clinical and molecular characterization of five Chinese patients with autosomal recessive osteopetrosis

por Liang, Huanhuan, Li, Niu, Yao, Ru‐en, Yu, Tingting, Ding, Lixia, Chen, Jing, Wang, Jian
Publicado 2021

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 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 2016

A novel heterozygous variant of FOXJ1 in a Chinese female with primary ciliary dyskinesia and hydrocephalus: A case report and literature review

por Gao, Shiyang, Zhang, Qianwen, Feng, Biyun, Gu, Shili, Li, Zhiying, Sun, Lianping, Yao, Ru‐en, Yu, Tingting, Ding, Yu, Wang, Xiumin
Publicado 2023

Identification and functional analysis of novel SOX11 variants in Chinese patients with Coffin-Siris syndrome 9

por Ding, Yu, Chen, Jiande, Tang, Yijun, Chen, Li-Na, Yao, Ru-En, Yu, Tingting, Yin, Yong, Wang, Xiumin, Wang, Jian, Li, Niu
Publicado 2022

Complex clinical manifestations and new insights in RNA sequencing of children with diabetes and WFS1 variants

por Ding, Yu, Li, Zhe, Zhang, Qianwen, Li, Niu, Chang, Guoying, Wang, Yirou, Li, Xin, Li, Juan, Li, Qun, Yao, Ru-en, Li, Xin, Wang, Xiumin
Publicado 2023

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 2013

Molecular and phenotypic spectrum of cardio-facio-cutaneous syndrome in Chinese patients

por Feng, Biyun, Li, Xin, Zhang, Qianwen, Wang, Yirou, Gu, Shili, Yao, Ru-en, Li, Zhiying, Gao, Shiyang, Chang, Guoying, Li, Qun, Li, Niu, Fu, Lijun, Wang, Jian, Wang, Xiumin
Publicado 2023

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 2018