Browsing "Department of Paediatrics & Adolescent Medicine" by Author kan, sya

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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
 
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
 
Expanded Prader-Willi Syndrome Due to Chromosome 15q11.2-14 Deletion: Report and a Review of Literature
Journal:American Journal of Medical Genetics, Part A
Liu, APYTang, WFLau, ETKChan, YKKan, SYAWong, KYTso, WYWJalal, KLee, SLChau, CSKChung, BHY
2013
69
 
Experience of chromosomal microarray applied in prenatal and postnatal settings in Hong Kong
Journal:American Journal of Medical Genetics Part C: Seminars in Medical Genetics
Cheng, SSWChan, YKLeung, KKPAu, PKCTam, WKLi, SKMLuk, HMKan, SYAChung, BHYLo, FMITang, MHY
2019
113
 
Genetic counseling/consultation in South-East Asia: A report from the workshop at the 10th Asia Pacific Conference on Human Genetics
Journal:Journal of Genetic Counseling
Zayts, OASarangi, SThong, MKChung, BHYLo, FMKan, SYALee, MHPadilla, CDCutiongco-de la Paz, EMFaradz, MHSWasant, P
2013
62
 
Health professionals’ involvement and information provision in genetic counseling following prenatal diagnosis of sex chromosome aneuploidy in Hong Kong
Journal:International Journal of Gynecology & Obstetrics
So, PLCheng, YKYCheuk, KYChiu, WKMak, SLMok, SLLo, TKYung, WKLo, FMIChung, BHYKan, SYALee, CPTang, MHY
2019
61
 
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
 
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
 
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
 
Immunoprophylaxis Failure of Infants Born to Hepatitis B Carrier Mothers Following Routine Vaccination
Journal:Clinical Gastroenterology and Hepatology
Cheung, KWSeto, TYMKan, SYAJalal, KChee, WYYWong, RMSLee, CPNg, EHY
2018
68
 
Implementation of Public Funded Genome Sequencing in Evaluation of Fetal Structural Anomalies
Journal:Genes
So, PLHui, ASTMa, TWLShu, WHui, PWKong, CWLo, TKKan, ABCKan, EYLChong, SCChung, BHYLuk, HMChoy, KWKan, SYALeung, WC
2022
 
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
 
Parental decisions following prenatal diagnosis of sex chromosome aneuploidy in Hong Kong
Journal:Journal of Obstetrics and Gynaecology Research
So, PLCheng, YKYCheuk, KYChiu, WKMak, SLMok, SLLo, TKYung, WKLo, FMChung, BHYKan, SYALee, CPTang, MHY
2017
89
 
Paternal uniparental disomy of chromosome 19 in a pair of monochorionic diamniotic twins with dysmorphic features and developmental delay
Journal:Journal of Medical Genetics
Yeung, KSHo, SPLee, SLKan, SYAChan, YKTang, MHYMAK, CCYLeung, KCSo, PLPfundt, RMarshall, CRScherer, SWChoufani, SWeksberg, RChung, BHY
2018
79
 
A prenatal case of split-hand malformation associated with 17p13.3 triplication – A dilemma in genetic counseling
Journal:European Journal of Medical Genetics
Luk, HMWong, VCHLo, IFMChan, YKLau, ETKKan, SYATang, MHYTang, WFShe, WMKChu, WYSin, WKChung, BHY
28-Jan-2014
69
 
Prenatal presentation in two fetuses with features of Beckwith Wiedemann syndrome—An unexpected diagnosis of androgenetic chimera and its clinical implications
Journal:American Journal of Medical Genetics Part A
Yu, PTShu, WMok, SLHui, PWChan, LWKwok, KYChan, YKLo, TKChung, BHYLuk, HMKan, SYA
2022
9
 
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
 
Under-recognition of 22q11.2 deletion in adult Chinese patients with conotruncal anomalies: Implications in transitional care
Journal:European Journal of Medical Genetics
Liu, APYChow, PCLee, PPWMok, GTKTang, WFLau, ETKLam, STSChan, YKKan, SYAChau, AKTCheung, YFLau, YLChung, BHY
2014
88
 
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
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