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Showing results 1 to 14 of 14

	Title	Author(s)	Issue Date
	A novel patient with an attenuated Costello syndrome phenotype due to an HRAS mutation affecting codon 146-Literature review and update Journal:American Journal of Medical Genetics Part A	Chiu, ATG Leung, GKC Chu, YWY Gripp, KW Chung, BHY	2017
	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
	Clinical application of whole exome sequencing for paediatric undiagnosed diseases in Hong Kong: experience from first sixty cases Proceeding/Conference:Annual Scientific Meeting of the Hong Kong College of Paediatricians, HKCPaed 2015	Mak, CCY Chu, YWY Wong, WL Leung, GKC Chung, BHY	2015
	Clinical Quiz - What is the Diagnosis? Journal:Hong Kong Journal of Paediatrics (new series)	Mok, GTK Chu, YWY Tan, TY Chung, BHY	2014
	Clinical Quiz - What is the Diagnosis? Journal:Hong Kong Journal of Paediatrics (New series)	Mok, GTK Ip, JJK Chu, YWY Chung, BHY	2015
	Clinical Quiz - What is the Diagnosis? Journal:Hong Kong Journal of Paediatrics (New series)	Mok, GTK Luk, HM Chu, YWY Chung, BHY	2014
	Copy number variation in Hong Kong patients with autism spectrum disorder Proceeding/Conference:Hong Kong Journal of Paediatrics (New series)	Mak, ASL Leung, GKC Mak, CCY Chu, YWY Mok, GTK Tang, TWF Chan, KYK Kan, ASY Tang, MHY Lau, ETK So, KW Tao, QV Fung, CW Wong, VCN Lee, SL Chung, BHY	2016
	Genetic diagnosis of drug-resistant epilepsy by whole exome sequencing and chromosomal array in Hong Kong Proceeding/Conference:Annual Scientific Meeting of the Hong Kong College of Paediatricians cum Hong Kong-Guangdong-Shanghai-Chongqing Paediatric Exchange Meeting, 2016	Tsang, HY Leung, KC Mak, CCY Chu, YWY Miu, X Lee, SL Chan, GCF Yung, AWY Chung, BHY	2016
	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
	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
	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
	What is the Diagnosis ? - 1P36 deletion Journal:Hong Kong Journal of Paediatrics (new series)	Chan, PYT Chu, YWY Chung, BHY	2015
	What is the Diagnosis? Journal:Hong Kong Journal of Paediatrics (New series)	Lo, HPW Chu, YWY Luk, HM Chung, BHY	2016

Showing results 1 to 14 of 14