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Title	Author(s)	Issue Date	Views
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	81
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	71
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	106
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	40
Contribution of gain-of-function mutations in R1T1 to the pathogenesis of Noonan syndrome: a report of 3 new Chinese patients in Hong Kong Proceeding/Conference:HKU Department of Paediatrics & Adolescent Medicine Golden Jubilee Scientific Meeting	Leung, KC Ma, CH Gao, W Chu, WY Wong, WL Jin, D Lo, IFM Luk, HM Chung, BHY	2014	65
Cyclometallated Gold(III) Complexes as Effective Catalysts for Synthesis of Propargylic Amines, Chiral Allenes and Isoxazoles Journal:Advanced Synthesis & Catalysis	Kung, KKY Lo, VKY Ko, HM Li, GL Chan, PY Leung, KC Zhou, Z Wang, M Che, CM Wong, MK	2013	70
De novo C-terminal truncating mutations in MN1 cause a neurodevelopmental syndrome with distinctive facial features Proceeding/Conference:European Human Genetics Conference, 2019	Gordon, CT Leung, KC Mak, CCY Doherty, D Lin, A Vegas, N Cho, M Dimartino, C Weisfeld-Adams, J Lessel, D Joss, S Li, C Gonzaga-Jauregui, C Zarate, Y Troyer, C Kant, S Leung, G Barone, A Yang, S Bend, E Roadhouse, C Zahir, F Stolerman, E Bienvenu, T Orenstein, N Dobyns, W Shieh, J Waggoner, D Gripp, K Parker, M Stoler, J Lyonnet, S Cormiere-Daire, V Viskochil, D Hoffman, T Amiel, J Chung, BHY	2019	142
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	82
Dynamic discriminant functions with missing feature values Journal:Pattern Recognition Letters	Leung, KC Leung, CH	2013	46
Effectiveness of brachytherapy and fractionated stereotactic radiotherapy boost for persistent nasopharyngeal carcinoma Journal:Head Neck	Yau, TK Sze, WM Lee, WMA Yeung, MW Leung, KC Hung, WM Chan, WI	2004	65
Effects of estrogen on parkin, UCH-L1, and uncoupling protein (UCP) 2, -4, and -5 on MPP+-induced apoptosis in human neuroblastoma Proceeding/Conference:Movement Disorders	Ho, WL Chan, YL Leung, KC Kung, MHW Ramsden, DB Ho, SL	2004	124
Epigenetic dysregulation of leukaemic HOX code in MLL-rearranged leukaemia mouse model Journal:Journal of Pathology	Ng, RK Kong, CT So, JCC Lui, WC Chan, YF Leung, KC So, CKC Tsang, HM Chan, LC Sham, MH	2014	89
Estrogenic phenol and catechol metabolites of PCBs modulate catechol-o-methyltransferase expression via the estrogen receptor: Potential contribution to cancer risk Journal:Current Drug Metabolism	Ho, PWL Garner, CE Ho, JWM Leung, KC Chu, ACY Kwok, KHH Kung, MHW Burka, LT Ramsden, DB Ho, SL	2008	167
Exome sequencing for paediatric-onset diseases: impact of the extensive involvement of medical geneticists in the diagnostic odyssey Journal:npj Genomic Medicine	Mak, CCY Leung, KC Mok, TKG Yeung, KS Yang, W Fung, CW Chan, HSS Lee, SL Lee, NC Pfundt, R Lau, YL Chung, BHY	2018	96
Exome sequencing identifies molecular diagnosis in children with drug-resistant epilepsy Journal:Epilepsia Open	Tsang, HY Leung, KC Ho, CCA Yeung, KS Mak, CCY Pei, LCS Yu, HC Kan, SYA Chan, YK Kwong, KL Lee, SL Yung, AWY Fung, CW Chung, BHY	2019	111
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	43
Fingerprint retrieval by spatial modelling and distorted sample generation Journal:IET Computer Vision	Leung, KC Leung, CH	2013	44
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	47
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	31
Genetic landscape of RASopathies in Chinese: Three decades' experience in Hong Kong Journal:American Journal of Medical Genetics Part C: Seminars in Medical Genetics	Yu, KPT Luk, HM Leung, KC Mak, CCY Cheng, SSW Hau, EWL Chan, DKH Lam, STS Tong, TMF Chung, BHY Lo, FMI	2019	81

Showing results 11 to 30 of 65 < previous next >