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Title	Author(s)	Issue Date
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
COQ10 deficiency due to biallelic COQ4 mutations – An early onset mitochondrial disorder common in southern Chinese due to a founder mutation 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	YU, HC TSANG, HY Pei, LCS Chan, VCM Rodenburg, RJT Smeitink, J Lee, NNC Fung, CW Chung, BHY	2018
Delineation of molecular findings by whole-exome sequencing for suspected cases of paediatric-onset mitochondrial diseases in the Southern Chinese population Journal:Human Genomics	TSANG, MHY Kwong, AKY Chan, KLS Fung, JLF YU, MHC Mak, CCY Yeung, KS Rodenburg, RJT Smeitink, JAM Chan, R Tsoi, T Hui, J Wong, SSN Tai, SM Chan, VCM Ma, CK Fung, STH Wu, SP Chak, WK Chung, BHY Fung, CW	2020
Demonstration of nitric oxide generation during renal ischemia-reperfusion injury Proceeding/Conference:Transplantation Proceedings	Lui, SL Zhang, XH Zhu, W Lo, CY Chan, DTM Fung, CW Lai, KN	1999
Demonstration of nitric oxide generation during renal ischemia-reperfusion injury using paramagnetic resonnance spectroscopy Journal:Transplantation Proceedings	Lui, SL Zhang, XH Zhu, W Lo, CY Chan, DTM Fung, CW Lai, KN	1999
A diagrammatic approach to search for minimum sampling frequency and quantization resolution for digital control of power converters Proceeding/Conference:PESC Record - IEEE Annual Power Electronics Specialists Conference	Fung, CW Liu, CP Pong, MH	2007
Dravet syndeome: genetic analysis of SCN1A and PCDH19 mutations for 17 Chinese children Proceeding/Conference:Hong Kong Medical Journal	Wong, VCN Kwong, A Fung, CW	2012
Dravet syndrome - genetic analysis of SCN1A and PCDH19 mutations for 17 Chinese children Proceeding/Conference:Developmental Medicine and Child Neurology	Wong, V Kwong, A Fung, CW	2012
Dravet Syndrome-Genetic analysis of SCN1A and PCDH19 mutations for 17 Chinese children Proceeding/Conference:International Meeting for Autism Research	Wong, VCN Kwong, AKY Fung, CW	2012
Effect of olive oil phenol hydroxytyrosol (HT) in patient cell model with mitochondrial complex deficiency Proceeding/Conference:Joint Annual Scientific Meeting 2020 (Virtual Meeting) of The Hong Kong Paediatric Society (HKPS), Hong Kong College of Paediatricians (HKCPaed), Hong Kong Paediatric Nurses Association (HKPNA) and Hong Kong College of Paediatric Nursing (HKCPN)	Kwong, AKY Fung, CW	2020
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 in paediatric patients with movement disorders [accepted - OJRD-D-20-00713R2] Journal:Orphanet Journal of Rare Diseases	Kwong, AKY TSANG, MHY Fung, JLF Mak, CCY Chan, KLS Rodenburg, RJT Lek, M Huang, S Pajusalu, S Yau, MM Tsoi, C Fung, S Liu, KT Ma, CK Wong, S Yau, EKC Tai, SM Fung, ELW Wu, NSP Tsung, LY Smeitink, J Chung, BHY Fung, CW	2021
Expanding phenotype and clinical analysis of tyrosine hydroxylase deficiency Journal:Journal of Child Neurology	Yeung, WL Wong, VCN Chan, KY Hui, J Fung, CW Yau, E Ko, CH Lam, CW Mak, CM Siu, S Low, L	2011
Folinic acid responsive epilepsy in Ohtahara Syndrome caused by STXBP1 mutation Journal:Pediatric Neurology	Tso, WYW Kwong, AK Fung, CW Wong, VCN	2014
Gene panel analysis for nonsyndromic cryptogenic neonatal/infantile epileptic encephalopathy Journal:Epilepsia Open	Fung, CW Kwong, KY Wong, CNV	2017
Health-related quality of life of children with epilepsy in Hong Kong: How does it compare with that of youth with epilepsy in Canada? Journal:Epilepsy and Behavior	Yam, WKL Ronen, GM Cherk, SWW Rosenbaum, P Chan, KY Streiner, DL Cheng, SWW Fung, CW Ho, JCS Kwong, KL Ma, LCK Ma, DKH Tsui, KW Wong, V Wong, TYL	2008
High diagnostic yield by whole exome sequencing in a cohort of patients with movement disorders and/or progressive spasticity – possible targeted treatment implications and a way to precison medicine Proceeding/Conference:Joint Annual Scientific Meeting 2019 of The Hong Kong Paediatric Society, Hong Kong College of Paediatricians, Hong Kong Paediatric Nurses Association, & Hong Kong College of Paediatric Nursing	Kwong, KY Tsang, MHY Fung, JLF Rodenburg, RJT Smeitink, J Chung, BHY Fung, CW	2019
High FGF-21 level in patients with Dravet Syndrome – Possible relationship with the disease outcomes Journal:Epilepsia Open	Kwong, KY Wong, CNV Wong, SSN Chu, LYV Koene, S Smeitink, J Fung, CW	2021
Human d-lactate dehydrogenase deficiency by LDHD mutation in a patient with neurological manifestations and mitochondrial complex IV deficiency Journal:JIMD Report	Kwong, KY Wong, SSN Rodenburg, RJT Smeitink, J Chan, GCF Fung, CW	2021

Showing results 21 to 40 of 97 < previous next >