Browsing "Obstetrics & Gynaecology: Conference papers" by Author rp00473

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TitleAuthor(s)Issue DateViews
 
With others and for others: accounting for decisions about genetic testing in the Clinic
Proceeding/Conference:Hong Kong Journal of Paediatrics (New series)
Au Yeung, KYGZayts, OASarangi, SChung, BHY
2014
36
 
Use of clinical chromosomal microarray in Hong Kong Chinese patients with autism spectrum disorder - implication of a copy number variation involving DPP10
Proceeding/Conference:Asian Society for Pediatric Research & Faculty of Medicine Ramathibodi Hospital Joint Meeting, ASPR 2016
Chu, YWYLeung, KCMak, ASLChiu, TAMak, CCYMok, TKGTang, WFChan, YKTang, MHYLau, ETKSo, KWTao, QVFung, CWWong, VCNLee, SLMarshall, CScherer, SKan, SYAChung, BHY
2016
61
 
Use of chromosomal microarray in Hong Kong patients with autism spectrum disorder - implication of a copy number variation involving DPP10
Proceeding/Conference:Annual Meeting of the American Society of Human Genetics, ASHG 2016
Chung, BHYMak, SLChiu, TALeung, KCMak, CCYChu, WYMok, TKGChan, YKKan, SYATang, MHYLau, ETKFung, CWLee, SL
2016
37
 
The KLHL40C.1516A>C is a Chinese-specific founder mutation in causing nemaline myopathy 8
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
Yeung, KSYu, YNFung, CWWong, SLee, HCHFung, STHFung, GPGYu, MHCFung, JLFTsang, MHYChan, YKChan, HSSKan, SYAChung, BHY
2019
36
 
Next Generation Sequencing in Prenatal Diagnosis
Proceeding/Conference:12th Asia-Pacific Conference on Human Genetics "Genomic Medicine and Clinical Practice", Bangkok, Thailand, 8-10 November 2017
LEUNG, KCKan, SYAChung, BHY
2017
18
 
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
52
 
Massive parallel sequencing for the genetic diagnosis of rasopathies: a study of 58 Chinese patients in Hong Kong
Proceeding/Conference:Annual Scientific Meeting of the Canadian College of Medical Geneticists, CCMG 2013
Lo, IFMLeung, KCLuk, MHMWong, WLTang, LYFChu, YWYKan, ASYTang, MHYLam, STSYang, WChan, YKChung, BHY
2013
26
 
Inverted duplication 18q12.1-q22
Proceeding/Conference:Hong Kong Journal of Paediatrics (new series)
Liu, APYHo, AYung, TCTam, TChan, KLau, ETang, MTan, TYChung, B
2011
108
 
Integration of chromosomal microarray into paediatric clinical care in Hong Kong
Proceeding/Conference:Hong Kong Journal of Paediatrics (New series)
Tao, VShe, WChu, WYTso, WChan, KYLau, EYLKan, ATang, MHLau, YLChung, BHY
2013
45
 
Integration of chromosomal microarray into paediatric clinical care in Hong Kong
Proceeding/Conference:Annual Scientific Meeting of the Hong Kong College of Paediatricians, HKCPaed 2013
Tao, VChu, YWYChan, KYLau, EYLMok, GTKTso, WLiu, AKan, ATang, MHLau, YLChung, BHY
2013
44
 
Identifying genetic mutations in patients with Rasopathies using a Next Generation Sequencing Diagnostic Pipeline in Hong Kong
Proceeding/Conference:Hong Kong Journal of Paediatrics (New series)
Lo, IFMLeung, KCLuk, HMTang, VHMGao, WWong, WLTang, LYFChu, WYKan, SYATang, MHYLam, STSYang, WMa, CHJin, DChan, YKChung, BHY
2014
107
 
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
24
 
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
40
 
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
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
56
 
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
61
 
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
52
 
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
44
 
Evaluating the clinical utility of genome sequencing for cytogenetically balanced chromosomal abnormalities in prenatal diagnosis
Proceeding/Conference:Health Research Symposium 2021
Yu, MHCChau, FTJAu, SLKLo, HMYeung, KSFung, JLFMak, CCYChung, CCYChan, KYKChung, BHYKan, ASY
2021
16
 
Disclosing results of autism genomic testing-systematic review and applying its results to clinical practice
Proceeding/Conference:International Meeting for Autism Research, IMFAR 2012
Chung, BCheuk, DKLTang, MLau, ETKChan, YKLau, YL
2012
95
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