Browsing by Author Yeung, KS

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TitleAuthor(s)Issue DateViews
 
Evaluating the diagnostgic impact and cost of rapid whole-exome sequencing for rare genetic diseases in Hong Kong
Proceeding/Conference:Joint Annual Scientific Meeting 2019 of The Hong Kong Paediatric Society, Hong Kong College of Paediatricians, Hong Kong Paediatric Nurses Association, & Hong Kong College of Paediatric Nursing
Chung, CYYeung, KSYu, HCMak, CCYFung, LFLeung, GKCChan, GCFLee, SLChung, BHY
2019
 
Evidence of spread of X Chromosome inactivation on Chromosome 15 in a girl with an Unbalanced t(X;15) Translocation
Proceeding/Conference:Hong Kong Journal of Paediatrics (New series)
Yeung, KSChee, WYYLuk, HMTang, MHYLau, ETKShuen, YALo, IFMChan, YKChung, BHY
2013
75
 
Exome sequencing for paediatric-onset diseases: impact of the extensive involvement of medical geneticists in the diagnostic odyssey
Journal:npj Genomic Medicine
Mak, CCYLeung, KCMok, TKGYeung, KSYang, WFung, CWChan, HSSLee, SLLee, NCPfundt, RLau, YLChung, BHY
2018
6
 
Exome sequencing identifies compound heterozygous DYNC2H1 variants associated with short-rib polydactyly syndrome type III with involvement of omphalocele in a fetus.
Proceeding/Conference:23rd Internatinal Conference on Prenatal Diagnosis and Therapy (ISPD 2019)
Chan, YKAu, LKSCheung, KWYeung, KSYu, HCChung, BHYKan, SYA
2019
10
 
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
28
 
Exome sequencing of a Chinese patient cohort with ID/ASD and macrocephaly/megalencephaly: Identification of a patient with biallelic PTEN mutations and others with germline/ post-zygotic mutations in PIK3C-AKT-mTOR pathway
Proceeding/Conference:17th Manchester Dysmorphology Conference
Chung, BHYYeung, KSTso, WYWYing, DIp, JKJChu, WYLeung, KCMak, CCY
2016
15
 
Genome-Wide DNA Methylation Analysis of Chinese Patients with Systemic Lupus Erythematosus Identified Hypomethylation in Genes Related to the Type I Interferon Pathway
Journal:PLoS One
YEUNG, KSChung, BHYChoufani, SMok, MYTWong, WLMAK, CCYYang, WLee, PPWWong, WHSChen, YAGrafodatskaya, DWong, RMSLau, WCSChan, TMWeksberg, RLau, YL
2017
81
 
Genome-wide DNA methylation analysis of Hong Kong Chinese systemic lupus erythematosus patients identified hypomethylated genes related to type I interferon
Proceeding/Conference:Epigenomics of Common Diseases Conference
Yeung, KSChoufani, SChen, YAGrafodatskaya, DLee, PPWYang, WWeksberg, RLau, YLChung, BHY
2013
66
 
Homozygous Missense Mutation in ABR Causes Cerebellar Hypoplasia with Early Lethality - A New Condition Identified by Exome Sequencing?
Proceeding/Conference:Hong Kong Journal of Paediatrics (New series)
Ying, DShek, NWMChu, WYYeung, KSLeung, KCTang, MHYKan, SYAChan, YKChung, BHY
2014
67
 
Homozygous missense mutation in ABR causes cerebellar hypoplasia with early lethality: a new condition identified by exome sequencing?
Proceeding/Conference:American Journal of Medical Genetics Part A
Ying, DShek, NWMChu, YWYYeung, KSLeung, KCTang, MHYKan, ASYChan, YKChung, BHY
2015
52
 
How common is mosaicism? The 9 years-experience in a university affiliated genetic clinic in Hong Kong
Proceeding/Conference:Joint Annual Scientific Meeting 2019 of The Hong Kong Paediatric Society, Hong Kong College of Paediatricians, Hong Kong Paediatric Nurses Association, & Hong Kong College of Paediatric Nursing
Lui, ACYChan, MCYFung, JLFYu, MHCMak, CCYTsang, MHYLee, MYeung, KSChung, BHY
2019
 
Identification of a CFTR founder mutations, c.3068T>G:p.I1023R, which causes protein trafficking defects in Chinese patients with cystic fibrosis
Proceeding/Conference:Asian Society for Pediatric Research & Faculty of Medicine Ramathibodi Hospital Joint Meeting, ASPR 2016
Leung, KCYing, DMak, CCYChen, XYXu, WYeung, KSChu, WYMok, TKGChau, SKCMcLuskey, JOng, WPTLeong, HYChan, YKYang, WChen, JHLi, AMLau, YLLee, SLChung, BHY
2016
30
 
Identification of a novel homozygous missense mutation in ABR causing cerebellar hypoplasia with early lethality
Proceeding/Conference:Asian Society for Pediatric Research & Faculty of Medicine Ramathibodi Hospital Joint Meeting, ASPR 2016
Leung, GKCYing, DShek, NWMChu, WYYeung, KSTang, MHYKan, SYAChan, YKIp, JKJYang, WLau, YLChung, BHY
2016
22
 
Identification of epigenetic alterations in imprinting growth disorders
Proceeding/Conference:HKU Department of Paediatrics & Adolescent Medicine Golden Jubilee Scientific Meeting
Wong, WLChu, WYYeung, KSMak, CCYWong, KYLi, RHWTang, MHYChung, BHY
2014
 
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
30
 
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
12
 
Muddling Through Muscle Genes – The Quest For Diagnosis In 50 Patients With Neuromuscular Disorders Using Whole Exome Sequencing.
Proceeding/Conference:Asian Oceanian Congress of Child Neurology
Tsang, MHYChiu, ATGKwong, BMHRui, LIANGYu, MHCYeung, KSHo, WHLMak, CCYLeung, GKCMuntoni, FChung, BHYChan, HSS
2019
8
 
Mutation in PIK3CA leading to developmental mosaic disorders
Proceeding/Conference:Annual Scientific Meeting of the Hong Kong College of Paediatricians, HKCPaed 2015
Yeung, KSLeung, GKCWong, WLLi, CHChoi, KYKuong, EEYLChow, WTo, MKTIp, JKJChow, CPChan, GCFChung, BHY
2015
34
 
Next generation sequencing in prenatal diagnosis
Proceeding/Conference:American Society of Human Genetics Annual Meeting, ASHG2017
Leung, GKCMak, CCYPei, SLCTsang, MHYYu, MHCYeung, KSMok, GTKHui, APWTang, MHYChan, KYKKan, SYAChung, BHY
2017
22
 
On the application of variable digital filters (VDF) to the realization of software radio receivers
Proceeding/Conference:Proceedings - IEEE International Symposium on Circuits and Systems
Chan, SCYeung, KS
2003
53
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