Search Results - "Pei, Steven Lim‐Cho"

Exome sequencing identifies molecular diagnosis in children with drug‐resistant epilepsy by 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

“…Summary Objective Early onset drug‐resistant epilepsy is a neurologic disorder in which 2 antiepileptic drugs fail to maintain the seizure‐free status of the…”
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Editorial: Genetics and mechanism of ciliopathies by Pei, Steven Lim Cho, Chung, Brian Hon Yin

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Glis2 is an early effector of polycystin signaling and a target for therapy in polycystic kidney disease by Zhang, Chao, Rehman, Michael, Tian, Xin, Pei, Steven Lim Cho, Gu, Jianlei, Bell, Thomas A., Dong, Ke, Tham, Ming Shen, Cai, Yiqiang, Wei, Zemeng, Behrens, Felix, Jetten, Anton M., Zhao, Hongyu, Lek, Monkol, Somlo, Stefan

“…Mouse models of autosomal dominant polycystic kidney disease (ADPKD) show that intact primary cilia are required for cyst growth following the inactivation of…”
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Identification of mutations in the PI3K-AKT-mTOR signalling pathway in patients with macrocephaly and developmental delay and/or autism by 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

“…Macrocephaly, which is defined as a head circumference greater than or equal to + 2 standard deviations, is a feature commonly observed in children with…”
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Dephosphorylation Facilitates Trafficking of Mutant Polycystin-2 to Cilia: FR-PO568 by Cai, Yiqiang, Dong, Ke, Spitzer, Max, Geiges, Linda, Tian, Xin, Krappitz, Matteus, Diggs, Lonnette, Wei, Zemeng, Cordido, Adrian, Pei, Steven Lim Cho, Fedeles, Sorin V., Somlo, Stefan

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Pkd2 Re-Expression Can Reverse Liver Cysts and Improve GFR in Mouse Models of Autosomal Dominant Polycystic Kidney Disease: FR-PO345 by Dong, Ke, Tham, Mingshen, Cordido, Adrian, Cai, Yiqiang, Pei, Steven Lim Cho, Bhardwaj, Rishi, Wei, Zemeng, Rehman, Michael, Roy, Kasturi, Tian, Xin, Somlo, Stefan

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

“…Human heterotaxy is a group of congenital disorders characterized by misplacement of one or more organs according to the left-right axis. The genetic causes of…”
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