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Title	Author(s)	Issue Date
A significant inflation in TGM6 genetic risk casts doubt in its causation in spinocerebellar ataxia type 35 Journal:Parkinsonism & Related Disorders	Fung, LF TSANG, HY Leung, KC Yeung, KS MAK, CCY Fung, CW Chan, HSS YU, HC Chung, BHY	2019
Application of whole exome sequencing in neuromuscular disorders patients in Hong Kong Proceeding/Conference:2nd Joint Annual Research & Scientific Meeting 2018 of The Hong Kong Paediatric Society, Hong Kong College of Paediatricians, Hong Kong Paediatric Nurses Association and Hong Kong College of Paediatric Nursing	TSANG, HY Kwong, BMH Pei, LCS Leung, KC Yeung, KS MAK, CCY YU, HC Fung, LF Liang, R Chung, BHY Chan, HSS	2018
The Application of Whole-Exome Sequencing in Diagnosis Pediatric Rare Disease in Hong Kong Journal:North American Journal of Medicine and Science	Mak, CCY Ying, D LEUNG, KC Lee, PPW Yang, J Yang, W Chung, BHY Lau, YL	2014
Before and after – Nutritional transformation of dysmorphism in a case of Costello syndrome Journal:European Journal of Medical Genetics	Chiu, TA Zhu, L Mok, TKG LEUNG, KC Chow, CB Chung, BHY	2016
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
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
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
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
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
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
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
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
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 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
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
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
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
Homozygous missense mutation in ABR causes cerebellar hypoplasia with early lethality: a new condition identified by exome sequencing? Proceeding/Conference:American Journal of Medical Genetics Part A	Ying, D Shek, NWM Chu, YWY Yeung, KS Leung, KC Tang, MHY Kan, ASY Chan, YK Chung, BHY	2015
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

Showing results 1 to 20 of 35 next >