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	Title	Author(s)	Issue Date
	Assessment of iron storage using magnetic resonance imaging (MRI): insights from studying thalassaemia major and Haemoglobin H disease Proceeding/Conference:HKCP-HKCPaed 1999 Joint Scientific Meeting	Chan, KN Ha, SY Tsang, KWT Chan, VNY Lam, WWM Khong, PL Chan, GCF Chan, KL Ngan, H Chan, FL Lau, YL Ooi, CGC	1999
	Spontaneous Growth in Chinese Patients with Turner's Syndrome Proceeding/Conference:Hong Kong Journal of Paediatrics	Kwan, EYW Sham, C Karlberg, JPE Tang, GWK Pang, H Tse, W But, B Yu, CM Lam, S Low, LCK	1996
	Spontaneous growth in Chinese patients with Turner's syndrome Proceeding/Conference:Guangzhou Paediatric Meeting	Kwan, EYW Sham, C Karlberg, JPE Tang, GWK Pang, H Tse, W But, B Yu, CM Lam, S Low, LCK	1996
	Evaluating the clinical utility of genome sequencing for cytogenetically balanced chromosomal abnormalities in prenatal diagnosis Proceeding/Conference:Health Research Symposium 2021	Yu, MHC Chau, FTJ Au, SLK Lo, HM Yeung, KS Fung, JLF Mak, CCY Chung, CCY Chan, KYK Chung, BHY Kan, ASY	2021
	Prediction of Metabolically Unhealthy Phenotype By The Visceral Adiposity Index, Lipid Accumulation Product And Triglyceride-glucose Index In Chinese Women With Polycystic Ovary Syndrome Proceeding/Conference:Human Reproduction	Li, RHW Lam, KSL Tam, S Wong, WKE Lee, VCY Cheung, PT Ho, PC Ng, EHY	2017
	Next generation sequencing in prenatal diagnosis Proceeding/Conference:American Society of Human Genetics Annual Meeting, ASHG2017	Leung, GKC Mak, CCY Pei, SLC Tsang, MHY Yu, MHC Yeung, KS Mok, GTK Hui, APW Tang, MHY Chan, KYK Kan, SYA Chung, BHY	2017
	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, KC Kan, SYA Chung, BHY	2017
	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, GKC Ying, D Shek, NWM Chu, WY Yeung, KS Tang, MHY Kan, SYA Chan, YK Ip, JKJ Yang, W Lau, YL Chung, BHY	2016
	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, KC Ying, D Mak, CCY Chen, XY Xu, W Yeung, KS Chu, WY Mok, TKG Chau, SKC McLuskey, J Ong, WPT Leong, HY Chan, YK Yang, W Chen, JH Li, AM Lau, YL Lee, SL Chung, BHY	2016
	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, BHY Mak, SL Chiu, TA Leung, KC Mak, CCY Chu, WY Mok, TKG Chan, YK Kan, SYA Tang, MHY Lau, ETK Fung, CW Lee, SL	2016
	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, YWY Leung, KC Mak, ASL Chiu, TA Mak, CCY Mok, TKG Tang, WF Chan, YK Tang, MHY Lau, ETK So, KW Tao, QV Fung, CW Wong, VCN Lee, SL Marshall, C Scherer, S Kan, SYA Chung, BHY	2016
	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, D Shek, NWM Chu, WY Yeung, KS Leung, KC Tang, MHY Kan, SYA Chan, YK Chung, BHY	2014
	An X-linked dominant mutation in LAMP2 causing Danon disease associated with myotonia expanding the spectrum Proceeding/Conference:Neuromuscular Disorders	Chan, SHS Kan, ASY Tse, HF	2013
	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, KYG Zayts, OA Sarangi, S Chung, BHY	2014
	Serum level of sex hormone-binding globulin is a good independent predictor of metabolic syndrome in women with polycystic ovary syndrome Proceeding/Conference:ICE / ENDO 2014	Li, RHW Lam, KSL Tam, S Lee, VCY Yeung, TWY Cheung, PT Yeung, WSB Ho, PC Ng, EHY	2014
	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, D Shek, NWM Chu, YWY Yeung, KS Leung, KC Tang, MHY Kan, ASY Chan, YK Chung, BHY	2015
	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, IFM Leung, KC Luk, HM Tang, VHM Gao, W Wong, WL Tang, LYF Chu, WY Kan, SYA Tang, MHY Lam, STS Yang, W Ma, CH Jin, D Chan, YK Chung, BHY	2014
	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, V Chu, YWY Chan, KY Lau, EYL Mok, GTK Tso, W Liu, A Kan, A Tang, MH Lau, YL Chung, BHY	2013
	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, IFM Leung, KC Luk, MHM Wong, WL Tang, LYF Chu, YWY Kan, ASY Tang, MHY Lam, STS Yang, W Chan, YK Chung, BHY	2013
	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, APY Chow, PC Lee, PPW Mok, TKG Tang, WF Lau, ETK Lam, STS Chan, KY Kan, SYA Chau, AKT Cheung, YF Lau, YL Chung, BHY	2013
	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, KS Chee, WYY Luk, HM Tang, MHY Lau, ETK Shuen, YA Lo, IFM Chan, YK Chung, BHY	2013
	Integration of chromosomal microarray into paediatric clinical care in Hong Kong Proceeding/Conference:Hong Kong Journal of Paediatrics (New series)	Tao, V She, W Chu, WY Tso, W Chan, KY Lau, EYL Kan, A Tang, MH Lau, YL Chung, BHY	2013
	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, BHY Leung, KC Mak, CCY Chow, CSK Ying, JD Chu, YWY Yang, WL Lau, YL Chan, KYK Lee, SL	2014
	Prediction of incident metabolic syndrome and dysglycaemia by adiposity and insulin resistance indices in Chinese women with polycystic ovary syndrome: a 4-year longitudinal study Proceeding/Conference:100th Annual Meeting & Expo of the Endocrine Society (ENDO), 2018	Li, RHW Lam, KSL Tam, S Wong, EWK Lee, VCY Cheung, PT Ho, PC Ng, EHY	2018
	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, KS Yu, YN Fung, CW Wong, S Lee, HCH Fung, STH Fung, GPG Yu, MHC Fung, JLF Tsang, MHY Chan, YK Chan, HSS Kan, SYA Chung, BHY	2019