A novel nonsense mutation in CRYBB1 associated with autosomal dominant congenital cataract

অনুযায়ী Yang, Juhua, Zhu, Yihua, Gu, Feng, He, Xiang, Cao, Zongfu, Li, Xuexi, Tong, Yi, Ma, Xu
প্রকাশিত 2008

Folic acid supplementation, preconception body mass index, and preterm delivery: findings from the preconception cohort data in a Chinese rural population

অনুযায়ী Wang, Yuanyuan, Cao, Zongfu, Peng, Zuoqi, Xin, Xiaona, Zhang, Ya, Yang, Ying, He, Yuan, Xu, Jihong, Ma, Xu
প্রকাশিত BMC Pregnancy Childbirth (2015)

A Novel Missense Variant in the Gene PPP2R5D Causes a Rare Neurodevelopmental Disorder with Increased Phenotype

অনুযায়ী Yan, Lulu, Shen, Ru, Cao, Zongfu, Han, Chunxiao, Zhang, Yuxin, Liu, Yingwen, Yang, Xiangchun, Xie, Min, Li, Haibo
প্রকাশিত Biomed Res Int (2021)

Genetic and Phenotype Analysis of a Chinese Cohort of Infants and Children With Epilepsy

অনুযায়ী Zhang Chuan, Zhang Chuan, Zhang Chuan, Cai Ruikun, Li Qian, Mei Shiyue, Hao Shengju, Yuan Yong, Li Haibo, Xiao Neng, Zhao Yong, Xue Huiqin, Wang Weijia, Hui Ling, Zhou Bingbo, Qinghua Zhang, Wang Yan, Cao Zongfu, Cao Zongfu, Ma Xu, Ma Xu
প্রকাশিত 2022-04-01

Mutation screening of crystallin genes in Chinese families with congenital cataracts

অনুযায়ী Zhuang, Jianfu, Cao, Zongfu, Zhu, Yihua, Liu, Lijuan, Tong, Yi, Chen, Xiaole, Wang, Yaduan, Lu, Cailing, Ma, Xu, Yang, Juhua
প্রকাশিত Mol Vis (2019)

Novel Compound Heterozygous Variants in MKS1 Leading to Joubert Syndrome

অনুযায়ী Luo, Minna, He, Ruida, Lin, Zaisheng, Shen, Yue, Zhang, Guangyu, Cao, Zongfu, Lu, Chao, Meng, Dan, Zhang, Jing, Ma, Xu, Cao, Muqing
প্রকাশিত Front Genet (2020)

Maternal UPD of chromosome 7 in a patient with Silver‐Russell syndrome and Pendred syndrome

অনুযায়ী Zhang, Chuan, Hao, Shengju, Zhang, Qinghua, Liu, Furong, Zhou, Bingbo, Xuan, Feng, Xing, Wang, Chen, Xue, Wang, Yan, Ma, Panpan, Cao, Zongfu, Ma, Xu
প্রকাশিত J Clin Lab Anal (2020)

Novel mutations in HSF4 cause congenital cataracts in Chinese families

অনুযায়ী Cao, Zongfu, Zhu, Yihua, Liu, Lijuan, Wu, Shuangqing, Liu, Bing, Zhuang, Jianfu, Tong, Yi, Chen, Xiaole, Xie, Yongqing, Nie, Kaimei, Lu, Cailing, Ma, Xu, Yang, Juhua
প্রকাশিত BMC Med Genet (2018)

Mutation analysis, treatment and prenatal diagnosis of Chinese cases of methylmalonic acidemia

অনুযায়ী Zhang, Chuan, Wang, Xing, Hao, Shengju, Zhang, Qinghua, Zheng, Lei, Zhou, Bingbo, Liu, Furong, Feng, Xuan, Chen, Xue, Ma, Panpan, Chen, Cuixia, Cao, Zongfu, Ma, Xu
প্রকাশিত Sci Rep (2020)

Clinical heterogeneity and intrafamilial variability of Joubert syndrome in two siblings with CPLANE1 variants

অনুযায়ী Zhang, Xiujuan, Shen, Yue, Li, Ping, Cai, Ruikun, Lu, Chao, Li, Qian, Chen, Cuixia, Yu, Yufei, Cheng, Tingting, Wang, Xian, Luo, Minna, Cao, Muqing, Cao, Zongfu, Ma, Xu
প্রকাশিত Mol Genet Genomic Med (2021)

Detailed pedigree analyses and prenatal diagnosis for a family with mucopolysaccharidosis type II

অনুযায়ী Zhang, Chuan, Hao, Shengju, Meng, ZhaoYan, Hui, Ling, Wang, Yan, Xuan, Feng, Chen, Xue, Wang, Xing, Zheng, Furong, Zheng, Lei, Zhou, Bingbo, Wu, Xinqi, Zhang, Qinghua, Cao, Zongfu
প্রকাশিত BMC Med Genomics (2021)

Identification of two novel pathogenic variants of PIBF1 by whole exome sequencing in a 2-year-old boy with Joubert syndrome

অনুযায়ী Shen, Yue, Wang, Hao, Liu, Zhimin, Luo, Minna, Ma, Siyu, Lu, Chao, Cao, Zongfu, Yu, Yufei, Cai, Ruikun, Chen, Cuixia, Li, Qian, Gao, Huafang, Peng, Yun, Xu, Baoping, Ma, Xu
প্রকাশিত BMC Med Genet (2020)

Mutation analysis of TCOF1 gene in Chinese Treacher Collins syndrome patients

অনুযায়ী Zhang, Chuan, An, Lisha, Xue, Huiqin, Hao, Shengju, Yan, Yousheng, Zhang, Qinghua, Jin, Xiaohua, Li, Qian, Zhou, Bingbo, Feng, Xuan, Ma, Panpan, Wang, Xing, Chen, Xue, Chen, Cuixia, Cao, Zongfu, Ma, Xu
প্রকাশিত J Clin Lab Anal (2020)

Whole exome sequencing reveals novel CEP104 mutations in a Chinese patient with Joubert syndrome

অনুযায়ী Luo, Minna, Cao, Li, Cao, Zongfu, Ma, Siyu, Shen, Yue, Yang, Di, Lu, Chao, Lin, Zaisheng, Liu, Zhimin, Yu, Yufei, Cai, Ruikun, Chen, Cuixia, Gao, Huafang, Wang, Xueyan, Cao, Muqing, Ma, Xu
প্রকাশিত Mol Genet Genomic Med (2019)

RAF dimer inhibition enhances the antitumor activity of MEK inhibitors in K‐RAS mutant tumors

অনুযায়ী Yuan, Xi, Tang, Zhiyu, Du, Rong, Yao, Zhan, Cheung, Shing‐Hu, Zhang, Xinwen, Wei, Jing, Zhao, Yuan, Du, Yunguang, Liu, Ye, Hu, Xiaoxia, Gong, Wenfeng, Liu, Yong, Gao, Yajuan, Huang, Zhiyue, Cao, Zongfu, Wei, Min, Zhou, Changyou, Wang, Lai, Rosen, Neal, Smith, Paul D., Luo, Lusong
প্রকাশিত Mol Oncol (2020)