Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Fenfen, Ni"'
Autor:
Han Chan, Fenfen Ni, Bo Zhao, Huimin Jiang, Juanjuan Ding, Li Wang, Xiaowen Wang, Jingjing Cui, Shipin Feng, Xiaojie Gao, Xueying Yang, Huan Chi, Hao Lee, Xuelan Chen, Xiaoqin Li, Jia Jiao, Daoqi Wu, Gaofu Zhang, Mo Wang, Yupeng Cun, Xiongzhong Ruan, Haiping Yang, Qiu Li
Publikováno v:
Genes and Diseases, Vol 11, Iss 4, Pp 101126- (2024)
Dissecting the genetic components that contribute to the two main subphenotypes of steroid-sensitive nephrotic syndrome (SSNS) using genome-wide association studies (GWAS) strategy is important for understanding the disease. We conducted a multicente
Externí odkaz:
https://doaj.org/article/c0500a73e6dd4730b26acce64684be07
Autor:
Jia Jiao, Li Wang, Fenfen Ni, Mo Wang, Shipin Feng, Xiaojie Gao, Han Chan, Xueying Yang, Hao Lee, Huan Chi, Xuelan Chen, Daoqi Wu, Gaofu Zhang, Baohui Yang, Anshuo Wang, Qin Yang, Junli Wan, Sijie Yu, Xiaoqin Li, Mei Wang, Xiaofeng Chen, Xianying Mai, Xiongzhong Ruan, Haiping Yang, Qiu Li
Publikováno v:
Genes and Diseases, Vol 9, Iss 6, Pp 1662-1673 (2022)
Understanding the association between the genetic and clinical phenotypes in children with nephrotic syndrome (NS) of different etiologies is critical for early clinical guidance. We employed whole-exome sequencing (WES) to detect monogenic causes of
Externí odkaz:
https://doaj.org/article/3a664aabdee94df8a9a50673eaa071a6
Publikováno v:
Indian Journal of Nephrology. 33:93
Publikováno v:
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 37(6)
To explore the clinical features and genetic basis for a patient with hereditary hypophosphatemic rickets with hypercalciuria(HHRH).Clinical data of the patient was collected. The patient was subjected to whole exome capture and next generation seque