The Association Between STAT4 rs7574865 Polymorphism and the Susceptibility of Autoimmune Thyroid Disease: A Meta-Analysis

por Gao, Xueren, Wang, Jianguo, Yu, Yongguo
Publicado 2019

Aromatic L‐amino acid decarboxylase deficiency in 17 Mainland China patients: Clinical phenotype, molecular spectrum, and therapy overview

por Dai, Weiqian, Lu, Deyun, Gu, Xuefan, Yu, Yongguo
Publicado 2020

A novel CHD7 mutation in a Chinese patient with CHARGE syndrome

por Liu, Lanbo, Yu, Tingting, Wang, Lili, Mo, Xi, Yu, Yongguo
Publicado 2014

Genetic and clinical characteristics of 24 mainland Chinese patients with CTNNB1 loss‐of‐function variants

por Yan, Dan, Sun, Yu, Xu, Na, Yu, Yongguo, Zhan, Yongkun
Publicado 2022

Targeted/exome sequencing identified mutations in ten Chinese patients diagnosed with Noonan syndrome and related disorders

por Xu, Shanshan, Fan, Yanjie, Sun, Yu, Wang, Lili, Gu, Xuefan, Yu, Yongguo
Publicado 2017

Rare Copy Number Variations in a Chinese Cohort of Autism Spectrum Disorder

por Fan, Yanjie, Du, Xiujuan, Liu, Xin, Wang, Lili, Li, Fei, Yu, Yongguo
Publicado 2018

Editorial: Ion channels and transporters in epilepsy: From genes and mechanisms to disease-targeted therapies

por He, Hailan, Stauber, Tobias, Liao, Weiping, Jiang, Yuwu, Yu, Yongguo, Peng, Jing
Publicado 2022

Maternal Obesity Caused by Overnutrition Exposure Leads to Reversal Learning Deficits and Striatal Disturbance in Rats

por Wu, Ting, Deng, Shining, Li, Wei-Guang, Yu, Yongguo, Li, Fei, Mao, Meng
Publicado 2013

Copy number variation analysis in Chinese children with complete atrioventricular canal and single ventricle

por Zhang, Xingyu, Wang, Bo, You, Guoling, Xiang, Ying, Fu, Qihua, Yu, Yongguo, Zhang, Xiaoqing
Publicado 2021

Whole Genome Low-Coverage Sequencing Concurrently Detecting Copy Number Variations and Their Underlying Complex Chromosomal Rearrangements by Systematic Breakpoint Mapping in Intel...

por Xiao, Bing, Ye, Xiantao, Wang, Lili, Fan, Yanjie, Gu, Xuefan, Ji, Xing, Sun, Yu, Yu, Yongguo
Publicado 2020

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

Novel Mutations in the SCNN1A Gene Causing Pseudohypoaldosteronism Type 1

por Wang, Jian, Yu, Tingting, Yin, Lei, Li, Jing, Yu, Li, Shen, Ye, Yu, Yongguo, Shen, Yongnian, Fu, Qihua
Publicado 2013

A pilot study of expanded newborn screening for 573 genes related to severe inherited disorders in China: results from 1,127 newborns

por Luo, Xiaomei, Sun, Yu, Xu, Feng, Guo, Jun, Li, Lin, Lin, Zhiwei, Ye, Jun, Gu, Xuefan, Yu, Yongguo
Publicado 2020

A Novel Nonsense Mutation of PHF6 in a Female with Extended Phenotypes of Borjeson-Forssman-Lehmann Syndrome

por Zhang, Xia, Fan, Yanjie, Liu, Xiaomin, Zhu, Ming-Ang, Sun, Yu, Yan, Hui, He, Yunjuan, Ye, Xiantao, Gu, Xuefan, Yu, Yongguo
Publicado 2019

The Fas/Fas Ligand Death Receptor Pathway Contributes to Phenylalanine-Induced Apoptosis in Cortical Neurons

por Huang, Xiaodong, Lu, Zhaohui, Lv, Zhongwei, Yu, Tingting, Yang, Peirong, Shen, Yongnian, Ding, Yu, Fu, Da, Zhang, Xiaoping, Fu, Qihua, Yu, Yongguo
Publicado 2013

Identification of RUNX2 variants associated with cleidocranial dysplasia

por Gao, Xueren, Li, Kunxia, Fan, Yanjie, Sun, Yu, Luo, Xiaomei, Wang, Lili, Liu, Huili, Gong, Zhuwen, Wang, Jianguo, Wang, Yu, Gu, Xuefan, Yu, Yongguo
Publicado 2019

Examining the blood amino acid status in pretherapeutic patients with  hyperphenylalaninemia

por Liang, Lili, Ye, Jun, Han, Lianshu, Qiu, Wenjuan, Zhang, Huiwen, Yu, Yongguo, Zhu, Tianwen, Xu, Feng, Zhan, Xia, Bao, Peizhong, Ji, Wenjun, Gu, Xuefan
Publicado 2019

A 29 Mainland Chinese cohort of patients with Phelan–McDermid syndrome: genotype–phenotype correlations and the role of SHANK3 haploinsufficiency in the important phenotypes

por Xu, Na, Lv, Hui, Yang, Tingting, Du, Xiujuan, Sun, Yu, Xiao, Bing, Fan, Yanjie, Luo, Xiaomei, Zhan, Yongkun, Wang, Lili, Li, Fei, Yu, Yongguo
Publicado 2020

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