日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Glis2 is an early effector of polycystin signaling and a target for therapy in polycystic kidney disease

Glis2 是多囊蛋白信号的早期效应物,也是多囊肾病治疗的靶点

Chao Zhang #, Michael Rehman #, Xin Tian #, Steven Lim Cho Pei, Jianlei Gu, Thomas A Bell 3rd, Ke Dong, Ming Shen Tham, Yiqiang Cai, Zemeng Wei, Felix Behrens, Anton M Jetten, Hongyu Zhao, Monkol Lek, Stefan Somlo

Editorial: Genetics and mechanism of ciliopathies

社论:纤毛病的遗传学和机制

Pei, Steven Lim Cho; Chung, Brian Hon Yin

Monoallelic Mutations in CC2D1A Suggest a Novel Role in Human Heterotaxy and Ciliary Dysfunction

CC2D1A基因的单等位基因突变提示其在人类异位症和纤毛功能障碍中发挥新作用

Ma, Alvin Chun Hang; Mak, Christopher Chun Yu; Yeung, Kit San; Pei, Steven Lim Cho; Ying, Dingge; Yu, Mullin Ho Chung; Hasan, Kazi Md Mahmudul; Chen, Xiangke; Chow, Pak Cheong; Cheung, Yiu Fai; Chung, Brian Hon Yin

Exome sequencing identifies molecular diagnosis in children with drug-resistant epilepsy

外显子组测序可确定药物难治性癫痫患儿的分子诊断

Tsang, Mandy Ho-Yin; Leung, Gordon Ka-Chun; Ho, Alvin Chi-Chung; Yeung, Kit-San; Mak, Christopher Chun-Yu; Pei, Steven Lim-Cho; Yu, Mullin Ho-Chung; Kan, Anita Sik-Yau; Chan, Kelvin Yuen-Kwong; Kwong, Karen Ling; Lee, So-Lun; Yung, Ada Wing-Yan; Fung, Cheuk-Wing; Chung, Brian Hon-Yin

Identification of mutations in the PI3K-AKT-mTOR signalling pathway in patients with macrocephaly and developmental delay and/or autism

鉴定巨头畸形、发育迟缓和/或自闭症患者中PI3K-AKT-mTOR信号通路的突变

Yeung, Kit San; Tso, Winnie Wan Yee; Ip, Janice Jing Kun; Mak, Christopher Chun Yu; Leung, Gordon Ka Chun; Tsang, Mandy Ho Yin; Ying, Dingge; Pei, Steven Lim Cho; Lee, So Lun; Yang, Wanling; Chung, Brian Hon-Yin