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Showing results 1 to 10 of 10

	Title	Author(s)	Issue Date	Views
	22q11.2 deletion syndrome in adult Chinese Patients with Conotruncal Anomalies: dysmorphisms, clinical features and underdiagnosis Proceeding/Conference:Hong Kong Journal of Paediatrics (New series)	Liu, APY Chow, PC Lee, PPW Mok, TKG Tang, WF Lau, ETK Lam, STS Chan, KY Kan, SYA Chau, AKT Cheung, YF Lau, YL Chung, BHY	2013
	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	110
	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	87
	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	90
	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	30
	Identifying the genetic causes for prenatally diagnosed structural congenital anomalies (SCAs) by whole-exome sequencing (WES) Journal:BMC Medical Genomics	Leung, KC Mak, CCY Fung, LF Wong, WHS Tsang, HY Yu, HC Pei, LCS Yeung, KS Mok, TKG Lee, CP Hui, PW Tang, MHY Chan, YK Liu, APY Yang, W Sham, PC Kan, SYA Chung, BHY	2018	111
	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	82
	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	45
	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	181
	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	84

Showing results 1 to 10 of 10