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	Title	Author(s)	Issue Date	Views
	Human Vγ9Vδ2-T cells exhibit potent antiviral activity against EV71 infection Proceeding/Conference:Immunology 2019	Lam, KTXiang, ZLiu, YWANG, XTu, W	2019
	Muddling Through Muscle Genes – The Quest For Diagnosis In 50 Patients With Neuromuscular Disorders Using Whole Exome Sequencing. Proceeding/Conference:15th Asian Oceanian Congress Of Child Neurology 19-21 Sept 2019 Kuala Lumpur.	Tsang, MHYChiu, ATGKwong, BMHRui, LIANGYu, MHCYeung, KSHo, WHLMak, CCYLeung, GKCMuntoni, FChung, BHYChan, HSS	2019
	THE IMPACT OF PAEDIATRIC NEUROMUSCULAR DISORDERS ON PARENTS’ HEALTH-RELATED QUALITY OF LIFE AND FAMILY FUNCTIONING Proceeding/Conference:2nd Joint Annual Research and Scientific Meeting 2018	Zhi, HHo, HTLiang, RChan, HSSIp, YT	2018
	The delivery of genetic counselling in Hong Kong from an interdisciplinary perspective Proceeding/Conference:2nd World Congress on Genetic Counselling: Exploring the evidence that guides genetic counselling to improve patient care, Wellcome Genome Campus, UK, 2-4 Oct 2019	Zayts, OAChung, BHY	2019
	Genomic medicine: A Hong Kong Story on how international collaboration has resulted in improved diagnosis, better patient management and discovery of new syndromes Proceeding/Conference:Genetics Clinical Grand Rounds, Department of Genetics, Yale School of Medicine, ASHG 2019, Houston, USA, 22 Oct 2019.	Chung, BHY	2019
	Genetic literacy and awareness of personalized medicine among undergraduates in Hong Kong Proceeding/Conference:Joint Annual Scientific Meeting 2019, HK College of Paediatricians, 28 Sept 2019	Mak, CCYChung, BHY	2019
	Comprehensive genetic evaluation in paediatric-onset mitochondrial diseases Proceeding/Conference:Joint Annual Scientific Meeting 2019, HK College of Paediatricians, 28 Sept 2019	TSANG, HYKwong, KYFung, LFYU, HCYeung, 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, HK College of Paediatricians, 28 Sept 2019	YU, HCAu, 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, HK College of Paediatricians, 28 Sept 2019	Yeung, KSYu, YNFung, CWWong, SLee, HCHFung, STHFung, GPGYU, HCFung, LFTSANG, HYChan, 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, HK College of Paediatricians, 28 Sept 2019	Lui, ACYChan, MCYFung, LFYU, HCTSANG, HYLee, 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, HK College of Paediatricians, 28 Sept 2019	CHUNG, CYYeung, KSYU, HCMak, CCYFung, LFLeung, KCChan, 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), Singapore, 7-11 Sept 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, HK College of Paediatricians, 28 Sept 2019	Chan, HSSKwong, KYTSANG, 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, HK College of Paediatricians, 28 Sept 2019.	Chan, MCYMak, CCYTSANG, HYYeung, KSFung, LFYU, HCLee, MCHUNG, CYLee, 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, HK College of Paediatricians, 28 Sept 2019	Kwong, KYTSANG, HYFung, LFRodenburg, RJTSmeitink, JChung, BHYFung, CW	2019
	Renalyzing 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, HK College of Paediatricians, 28 Sep 2019	Fung, LFHuang, SPajusalu, SYU, HCChan, MHui, 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. 14th -18 th Nov 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	8
	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	6