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Showing results 1 to 15 of 15

	Title	Author(s)	Issue Date
	A DYNC1H1 mutation causes a lower extremity predominance spinal muscular atrophy Proceeding/Conference:Annual Scientific Meeting of the Asian and Oceanian Myology Center, AOMC 2016	Chan, SHS Chung, BHY Mak, CCY Kamsteeg, EJ	2016
	CFTR: I1023R is a rare but recurrent disease-causing mutation found in Chinese patients with cystic fibrosis Proceeding/Conference:Annual Scientific Meeting of the Hong Kong College of Paediatricians, HKCPaed 2014	Leung, KC Mak, CCY Chen, YX Chau, CSK Ying, D Chu, WY Li, AM Yang, W Lau, YL Chan, KYK Chen, JH Lee, SL Chung, BHY	2014
	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 implications of large rare copy number variations in 110 Chinese patients with conotruncal heart disease Proceeding/Conference:Annual Scientific Meeting of the Hong Kong College of Paediatricians, HKCPaed 2014	Mak, CCY Chow, PC Chau, AKT Chan, YK Bassett, AS 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
	Exome sequencing of a Chinese patient cohort with ID/ASD and macrocephaly/megalencephaly: Identification of a patient with biallelic PTEN mutations and others with germline/ post-zygotic mutations in PIK3C-AKT-mTOR pathway Proceeding/Conference:17th Manchester Dysmorphology Conference	Chung, BHY Yeung, KS Tso, WYW Ying, D Ip, JKJ Chu, WY Leung, KC Mak, CCY	2016
	Genetic diagnosis of early onset epilepsy by whole exome sequencing and chromosomal array in Hong Kong Proceeding/Conference:Asian Society for Pediatric Research & Faculty of Medicine Ramathibodi Hospital Joint Meeting, ASPR 2016	Tsang, HY Leung, KC Mak, CCY Chu, WY Mu, X Lee, SL Chan, GCF Yung, AWY 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
	Identification of epigenetic alterations in imprinting growth disorders Proceeding/Conference:HKU Department of Paediatrics & Adolescent Medicine Golden Jubilee Scientific Meeting	Wong, WL Chu, WY Yeung, KS Mak, CCY Wong, KY Li, RHW Tang, MHY Chung, BHY	2014
	Mutations in ATP6V1E1 or ATP6V1A cause AR cutis laxia Proceeding/Conference:Asian Society for Pediatric Research & Faculty of Medicine Ramathibodi Hospital Joint Meeting, ASPR 2016	van Damme, T Gardenchik, T Mohamed, M Gucerrero-Castillo, S Freisinger, P Guillemyn, B Kariminejad, A Dalloyaux, D van Kraaij, S Lefeber, DJ Syx, D Steyaert, W De Rycke, R Hotschen, A Kamstccg, EJ Wong, SY van Scherpenzeei, M Jamali, P Brandt, U Nijtmans, L Korenke, C Chung, BHY Mak, CCY Hausser, I Kornak, U Fischer-Zirnsak, B Strom, TM Meitinger, T Alanay, Y Utine, GE Leung, PKC Ghadcri-Soli, S Coucke, P Symoens, S De Paepe, A Thiel, C Haack, TB Malfair, F Morava, E Callewaert, B	2016
	Reading NGS Test Report: What a clinician needs to know Proceeding/Conference:HA 2016 Commissioned Training Programme - Genetics in O&G	Chung, BHY Leung, KC Yeung, KS Mak, CCY	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
	Utilization of whole exome sequencing for undiagnosed diseases in Hong Kong Proceeding/Conference:European Human Genetics Conference, ESGH 2016	Mak, CCY Chung, BHY Chu, WY	2016

Showing results 1 to 15 of 15