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Showing results 1 to 16 of 16

	Title	Author(s)	Issue Date
	What is the Diagnosis? Journal:Hong Kong Journal of Paediatrics (New series)	Chiu, TA Chu, WY Kan, SYA Chung, BHY	2016
	Use of clinical chromosomal microarray in Chinese patients with autism spectrum disorder-implications of a copy number variation involving DPP10 Journal:Molecular Autism	Mak, ASL Chiu, TA Leung, KC Mak, CCY Chu, WY Mok, TKG Tang, WF Chan, YK Tang, MHY Lau, ETK So, KW Tao, QV Fung, CW Wong, CNV Uddin, M Lee, SL Marshall, CR Scherer, SW Kan, ASY Chung, BHY	2017
	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
	A prenatal case of split-hand malformation associated with 17p13.3 triplication – A dilemma in genetic counseling Journal:European Journal of Medical Genetics	Luk, HM Wong, VCH Lo, IFM Chan, YK Lau, ETK Kan, SYA Tang, MHY Tang, WF She, WMK Chu, WY Sin, WK Chung, BHY	28-Jan-2014
	Pathogenetics of Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins Journal:Human Genetics	Szafranski, P Gambin, T Dharmadhikari, AV Akdemir, KC Jhangiani, SN Schuette, J Godiwala, N Yatsenko, SA Sebastian, J Madan-Khetarpal, S Surti, U Abellar, RG Bateman, DA Wilson, AL Markham, MH Slamon, J Santos-Simarro, F Palomares, M Nevado, J Lapunzina, P Chung, BHY Wong, WL Chu, WY Mok, TKG Eitan, K Reiter, J Ambalavanan, N Anderson, SA Kelly, DR Shieh, J Rosenthal, TC Steiner, L Iqbal, MA McKinnon, M Hamilton, SJ Schlade-Bartusiak, K English, D Hendson, G Roeder, ER DeNapoli, TS Littlejohn, RO Wolff, DJ Wagner, CL Yeung, A Francis, D Fiorino, EK Edelman, M Fox, J Hayes, DA Janssens, S Baere, ED Menten, B Loccufier, A Walleghem, LV Moerman, P Sznajer, Y Lay, AS Kussmann, JL Chawla, J Payton, DJJ Philips, GE Brosens, E Tibboel, D de Klein, A Maystadt, I Fisher, R Sebire, N Male, A Chopra, M Pinner, J Malcolm, G Peters, G Arbuckle, S Lees, M Mead, Z Quarrell, O Sayers, R Owens, M Shaw-Smith, C Lioy, J McKay, E de Leeuw, N Feenstra, I Spruijt, L Elmslie, F Thiruchelvam, T Bacino, CA Langston, C Lupski, JR Sen, P Popek, E Stankiewicz, P	2016
	Integration of chromosomal microarray into paediatric clinical care in Hong Kong Proceeding/Conference:Hong Kong Journal of Paediatrics (New series)	Tao, V She, W Chu, WY Tso, W Chan, KY Lau, EYL Kan, A Tang, MH Lau, YL Chung, BHY	2013
	Integrating Functional Analysis in the Next-Generation Sequencing Diagnostic Pipeline of RASopathies Journal:Scientific Reports	Leung, KC Luk, HM Tang, HMV Gao, W MAK, CCY YU, HC Wong, WL Chu, WY Yang, W Wong, WHS Ma, CH Leung, AYH Jin, D Chan, YK Allanson, J Lo, FMI Chung, BHY	2018
	Identifying genetic mutations in patients with Rasopathies using a Next Generation Sequencing Diagnostic Pipeline in Hong Kong Proceeding/Conference:Hong Kong Journal of Paediatrics (New series)	Lo, IFM Leung, KC Luk, HM Tang, VHM Gao, W Wong, WL Tang, LYF Chu, WY Kan, SYA Tang, MHY Lam, STS Yang, W Ma, CH Jin, D Chan, YK Chung, BHY	2014
	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
	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
	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
	Homozygous Missense Mutation in ABR Causes Cerebellar Hypoplasia with Early Lethality - A New Condition Identified by Exome Sequencing? Proceeding/Conference:Hong Kong Journal of Paediatrics (New series)	Ying, D Shek, NWM Chu, WY Yeung, KS Leung, KC Tang, MHY Kan, SYA Chan, YK Chung, BHY	2014
	De novo large rare copy-number variations contribute to conotruncal heart disease in Chinese patients Journal:npj Genomic Medicine	MAK, CCY Chow, PC Liu, APY Chan, YK Chu, WY Mok, TKG LEUNG, KC YEUNG, KS Chau, AKT Lowther, C Scherer, SW Marshall, CR Bassett, AS Chung, BHY	2016
	The clinical impact of chromosomal microarray on paediatric care in Hong Kong Journal:PLoS ONE	Tao, QV Chan, YK Chu, WY Mok, TKG Tan, TY Yang, W Lee, SL Tang, WF Tso, WYW Lau, ETK Kan, SYA Tang, MHY Lau, YL Chung, BHY	20-Oct-2014
	Chinese patients with rasopathies: Detection of 29 known and novel variants using next-generation sequencing (NGS) Proceeding/Conference:36th Annual David W. Smith Workshop	Leung, KC Lo, I Luk, HM Tang, HMV Gao, W Wong, WL Chu, WY Lam, STS Ma, CH Jin, D Chan, YK Chung, BHY	2015
	CFTR founder mutation causes protein trafficking defects in Chinese patients with cystic fibrosis Journal:Molecular Genetics & Genomic Medicine	LEUNG, KC Ying, D MAK, CCY Chen, XY Xu, W YEUNG, KS Wong, WL Chu, WY Mok, TKG Chau, SKC McLuskey, J Ong, WPT Leong, HY Chan, YK Yang, W Chen, JH Li, AM Sham, PC Lau, YL Chung, BHY Lee, SL	2017

Showing results 1 to 16 of 16