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Showing results 1 to 11 of 11

	Title	Author(s)	Issue Date	Views
	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	55
	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	62
	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	68
	Cost-effectiveness analysis of chromosomal microarray as a primary test for prenatal diagnosis in Hong Kong Journal:BMC Pregnancy and Childbirth	CHUNG, CCY Chan, KYK Hui, PW Au, PKC Tam, WK Li, SKM Leung, GKC Fung, JLF Chan, MCY Luk, HM Mak, ASL Leung, KY Tang, MHY Chung, BHY Kan, ASY	2020	44
	Diagnostic value of whole‐exome sequencing in Chinese pediatric‐onset neuromuscular patients Journal:Molecular Genetics & Genomic Medicine	TSANG, HY Chiu, ATG Kwong, BMH LIANG, R Yu, MHC YEUNG, K-S Ho, WHL MAK, CCY LEUNG, GKC PEI, SLC Fung, JLF Wong, VCN Francesco, M Chung, BHY Chan, SHS	2020	56
	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, CY Yeung, KS Yu, HC Mak, CCY Fung, LF Leung, GKC Chan, GCF Lee, SL Chung, BHY	2019	36
	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	40
	Mechanisms for the generation of two quadruplications associated with split-hand malformation Journal:Human Mutation	Gu, S Posey, JE Yuan, B Carvalho, CMB Luk, HM Erikson, K Lo, IFM Leung, GKC Pickering, CR Chung, BHY Lupski, JR	2016	56
	Muddling Through Muscle Genes – The Quest For Diagnosis In 50 Patients With Neuromuscular Disorders Using Whole Exome Sequencing. Proceeding/Conference:Asian Oceanian Congress of Child Neurology	Tsang, MHY Chiu, ATG Kwong, BMH Rui, LIANG Yu, MHC Yeung, KS Ho, WHL Mak, CCY Leung, GKC Muntoni, F Chung, BHY Chan, HSS	2019	45
	Mutation in PIK3CA leading to developmental mosaic disorders Proceeding/Conference:Annual Scientific Meeting of the Hong Kong College of Paediatricians, HKCPaed 2015	Yeung, KS Leung, GKC Wong, WL Li, CH Choi, KY Kuong, EEYL Chow, W To, MKT Ip, JKJ Chow, CP Chan, GCF Chung, BHY	2015	127
	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	52

Showing results 1 to 11 of 11