Browsing by Author Pei, LCS

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TitleAuthor(s)Issue DateViews
 
Editorial: Genetics and mechanism of ciliopathies
Journal:Frontiers in Genetics
Pei, LCSChung, BHY
2022
 
Exome sequencing identifies molecular diagnosis in children with drug-resistant epilepsy
Journal:Epilepsia Open
Tsang, HYLeung, KCHo, CCAYeung, KSMak, CCYPei, LCSYu, HCKan, SYAChan, YKKwong, KLLee, SLYung, AWYFung, CWChung, BHY
2019
111
 
Identification of mutations in the PI3K-AKT-mTOR signalling pathway in patients with macrocephaly and developmental delay and/or autism
Journal:Molecular Autism
Yeung, KSTso, WYWIp, JKJMAK, CCYLeung, KCTSANG, HYYing, DPei, LCSLee, SLYang, WChung, BHY
2017
75
 
Identifying the genetic causes for prenatally diagnosed structural congenital anomalies (SCAs) by whole-exome sequencing (WES)
Journal:BMC Medical Genomics
Leung, KCMak, CCYFung, LFWong, WHSTsang, HYYu, HCPei, LCSYeung, KSMok, TKGLee, CPHui, PWTang, MHYChan, YKLiu, APYYang, WSham, PCKan, SYAChung, BHY
2018
111
 
NLRP3 Inflammasome Contributes to Host Defense Against Talaromyces marneffei Infection
Journal:Frontiers in Immunology
Chan, JFWTan, YPKui, LTsang, CCPei, LCSLau, YLWoo, PCYLee, PPW
2021
 
Novel damaging mutations in CC2D1A suggest a role in human heterotaxy and ciliary dysfunction
Proceeding/Conference:American Society of Human Genetics (ASHG) Virtual Meeting, 2020
Chung, BHYMa, ACHMak, CCYYeung, KSDing, JPei, LCSYing, DChow, PCYu, HCHasan, KMMChen, XCheung, YF
2020
20
 
Okur-Chung neurodevelopmental syndrome: Eight additional cases with implications on phenotype and genotype expansion
Journal:Clinical Genetics
Chiu, TAPei, LCSMAK, CCYLeung, KCYU, HCLee, SLVreeburg, MPfundt, Rvan der Burgt, IKleefstra, TFrederic, TMTNambot, SFaivre, LBruel, ALRossi, MIsidor, BKury, SCogne, BBesnard, TWillems, MReijnders, MRFChung, BHY
2018
132
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