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

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Showing results 17 to 27 of 27 < previous 
TitleAuthor(s)Issue DateViews
 
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
 
Copy number variation in Hong Kong patients with autism spectrum disorder
Proceeding/Conference:Hong Kong Journal of Paediatrics (New series)
Mak, ASLLeung, GKCMak, CCYChu, YWYMok, GTKTang, TWFChan, KYKKan, ASYTang, MHYLau, ETKSo, KWTao, QVFung, CWWong, VCNLee, SLChung, BHY
2016
68
 
Clinical utility of whole-genome sequencing for cytogenetically balanced chromosomal abnormalities in genetic diseases
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
Yu, MHCAu, LKSChan, YKTang, MHYKan, SYAChung, BHY
2019
39
 
Clinical implications of large rare copy number variations in 110 Chinese patients with conotruncal heart disease
Proceeding/Conference:Annual Scientific Meeting of the Hong Kong College of Paediatricians, HKCPaed 2014
Mak, CCYChow, PCChau, AKTChan, YKBassett, ASChung, BHY
2014
45
 
Chinese patients with rasopathies: Detection of 29 known and novel variants using next-generation sequencing (NGS)
Proceeding/Conference:36th Annual David W. Smith Workshop
Leung, KCLo, ILuk, HMTang, HMVGao, WWong, WLChu, WYLam, STSMa, CHJin, DChan, YKChung, BHY
2015
40
 
CFTR: p.I1023R is a rare but recurrent disease-causing mutation found in Chinese patients with Cystic Fibrosis
Proceeding/Conference:Annual Meeting of the American Society of Human Genetics, ASHG 2014
Chung, BHYLeung, KCMak, CCYChow, CSKYing, JDChu, YWYYang, WLLau, YLChan, KYKLee, SL
2014
106
 
22q11.2 deletion syndrome in adult Chinese Patients with Conotruncal Anomalies: dysmorphisms, clinical features and underdiagnosis
Proceeding/Conference:Hong Kong Journal of Paediatrics (New series)
Liu, APYChow, PCLee, PPWMok, TKGTang, WFLau, ETKLam, STSChan, KYKan, SYAChau, AKTCheung, YFLau, YLChung, BHY
2013
90
 
17p13.3 class I microduplication in a newborn with microcephaly, aortic stenosis and dysmorphic facial features
Proceeding/Conference:Hong Kong Journal of Paediatrics (new series)
Ho, ALiu, ALun, KSTam, TChan, KLau, ETang, MTan, TChung, B
2011
132
Showing results 17 to 27 of 27 < previous