Subscribe to this collection to receive daily e-mail notification of new additions

	Title	Author(s)	Issue Date
	Comprehensive genetic evaluation in paediatric-onset mitochondrial 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	Tsang, MHYKwong, AKYFung, JLFYu, MHCYeung, KSMak, CCYRodenburg, RSmeitink, JLuk, HMLo, FMIChung, BHYFung, CW	2019
	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
	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
	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
	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
	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
	Collagen VI and XII related myopathies: clinical variability and novel variants found in Hong Kong patients 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	Chan, HSSKwong, AKYTsang, HYHo, RSLLuk, HMLee, HChung, BHYBonnemann, CG	2019
	Diagnostic outcome of whole exome sequencing in Hong Kong familes with autism spectrum disorder 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	Chan, MCYMak, CCYTsang, HYYeung, KSFung, JLFYu, MHCLee, MMYChung, CCYLee, SLChung, BHY	2019
	High diagnostic yield by whole exome sequencing in a cohort of patients with movement disorders and/or progressive spasticity – possible targeted treatment implications and a way to precison medicine 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	Kwong, KYTsang, MHYFung, JLFRodenburg, RJTSmeitink, JChung, BHYFung, CW	2019
	Reanalyzing clinical whole exome sequencing (WES) data aprovides additional diagnosis in paediatric-onset undiagnosed diseases – a Yale-HKU collaborative study 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	Fung, LFHuang, SPajusalu, SYu, HCChan, MMak, CHui, VChung, CYLek, MChung, BHY	2019
	Collagen VI related myopathy: Clinical variability of triple helical domain mutations of COL6A mutations Proceeding/Conference:International Child Neurology Congress. Mumbai, India. 2018	Chan, HSSKwong, KYLuk, HMLo, IFMFung, STHTsang, HYMChung, BHYChan, AOK	2019
	Reliability and validity of performance of the upper limb module for Chinese patients with Duchenne muscular dystrophy: A new useful clinical tool to monitor the disease progress and as outcome measure for therapeutic drug trial Proceeding/Conference:18th Asian and Oceanian Myology Center Meeting 2019, Mumbai	Chiu, AYYChoi, SWCHui, CKCLi, YSLee, SLChan, HSS	2019
	Impact of Parent and Child Factors on Behavioural Problems of Children from Low-income Chinese Families Proceeding/Conference:7th Asia Pacific Primary Care Research Conference (APPCRC)	Yu, YTEChen, SLiu, SNKTang, HMWong, RSMWong, CKHLam, CLK	2019
	Understanding stress among low-income parents in Hong Kong Proceeding/Conference:WONCA Asia Pacific Regional Conference 2019	Yu, YTELiu, SNKTang, HMWong, RSMWong, CKHLam, CLK	2019
	Relationship Between Carotid Intima-Media Thickness and Arterial Stiffness in Children After Kawasaki Disease Proceeding/Conference:Circulation	Cheung, YFWong, SJHo, MHK	2006
	Global Longitudinal Strain and Strain Rate Imaging for Assessment of Systemic Right Ventricular Function Proceeding/Conference:Circulation	Chow, PCLiang, XLam, WWTCheung, EWYCheung, YF	2007
	Central and Peripheral Arterial Stiffness in Patients After Surgical Repair of Tetralogy of Fallot: Implications for Aortic Root Dilation Proceeding/Conference:Circulation	Cheung, YFOu, XWong, SJ	2006
	HKU discovers ADHD drug use increase in Hong Kong and 13 different countries: Safety and efficacy of ADHD drugs monitoring indispensable Proceeding/Conference:Media Press Conference, 19 September 2019	Wong, ICKIp, PChan, EWY	2018
	Orphan drugs - access and unmet needs in 194 countries and six regions: a comprehensive policy review with content analysis Proceeding/Conference:The Lancet	Chan, YLAChan, VKYOlsson, SFan, MJit, MGong, MZhang, SGe, MPathadka, SChui, SLCChan, EWChung, CCYChung, BHYWong, GHYIp, PLum, TYSWong, ICKLi, X	2019
	Arterial mechanics at rest and during exercise in anthracycline-treated long-term survivors of childhood cancers Proceeding/Conference:World Congress Paediatric Cardiology and Cardiac Surgery	Li, WYVLiu, APYHo, KKYau, JPCheuk, KLDCheung, YF	2017