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Title	Author(s)	Issue Date
A fatal case of COQ7-associated primary coenzyme Q10 deficiency Journal:JIMD Reports	Kwong, AKY Chiu, ATG TSANG, MHY Lun, KS Rodenburg, RJT Smeitink, J Chung, BHY Fung, CW	2019
Analysis of mutations in 7 genes associated with neuronal excitability and synaptic transmission in a cohort of children with non-syndromic Infantile Epileptic Encephalopathy Journal:PLoS ONE	Kwong, AKY Ho, CCA Fung, CW Wong, VCN	2015
ARX-associated infantile epileptic-dyskinetic encephalopathy with responsiveness to valproate for controlling seizures and reduced activity of muscle mitochondrial complex IV Journal:Brain & Development	Kwong, AKY Chu, VLY RODENBURG, RJT SMEITINK, J Fung, CW	2019
ATP1A3 mutation in a Chinese girl with alternating hemiplegia of childhood - Potential target of treatment? Journal:Brain & development	Wong, VCN Kwong, AKY	2015
Catalysis-based inhibitors of the calcium signaling function of CD38 Journal:Biochemistry	Kwong, AKY Chen, Z Zhang, H Leung, FP Lam, CMC Ting, KY Zhang, L Hao, Q Zhang, LH Lee, HC	2012
CDKL5 variant in a boy with Infantile Epileptic Encephalopathy: Case report Journal:Brain & Development	Wong, VCN Kwong, AKY	2015
Clinical and genetic evaluation of 23 children with infantile onset epileptic encephalopathy Proceeding/Conference:Hong Kong Medical Journal	Ho, ACC Kwong, AKY Fung, CW Wong, VCN	2013
Collagen VI and XII related myopathies: clinical variability and novel variants found in Hong Kong patients 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	Chan, HSS Kwong, AKY Tsang, HY Ho, RSL Luk, HM Lee, H Chung, BHY Bonnemann, CG	2019
Comprehensive genetic evaluation in paediatric-onset mitochondrial diseases 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	Tsang, MHY Kwong, AKY Fung, JLF Yu, MHC Yeung, KS Mak, CCY Rodenburg, R Smeitink, J Luk, HM Lo, FMI Chung, BHY Fung, CW	2019
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
Design, synthesis and biological characterization of novel inhibitors of CD38 Journal:Organic and Biomolecular Chemistry	Dong, M Si, YQ Sun, SY Pu, XP Yang, ZJ Zhang, LR Zhang, LH Leung, FP Lam, CMC Kwong, AKY Yue, J Zhou, Y Kriksunov, IA Hao, Q Cheung Lee, H	2011
Design, Synthesis And Biological Evaluation Of Noncovalent Inhibitors Of Human Cd38 Nadase Journal:ChemMedChem: chemistry enabling drug discovery	Zhou, Y Ting, KY Lam, CMC Kwong, AKY Xia, J Jin, HW Liu, ZM Zhang, LR Lee, HC Zhang, LH	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
Evaluating High‐Confidence Genes in Conotruncal Cardiac Defects by Gene Burden Analyses Journal:Journal of the American Heart Association Cardiovascular and Cerebrovascular Disease	Chui, MMC Mak, CCY Yu, MHC Wong, SYY Lun, KS Yung, TC Kwong, AKY Chow, PC Chung, BHY	21-Feb-2023
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
Generation of genomic-integration-free human induced pluripotent stem cells and the derived cardiomyocytes of X-linked dilated cardiomyopathy from DMD gene mutation Journal:Stem Cell Research	Zhu, S Law, AHY Deng, R Poon, ENY Lo, CW Kwong, AKY Liang, R Chan, KYK Wong, WL Tan-Un, KC Pijnappel, WWMP Chan, GCF Chan, SHS	2020
Patient-derived induced pluripotent stem cells differentiated cardiomyocytes as platform for disease modeling for X-linked dilated cardiomyopathy Proceeding/Conference:Neuromuscular Disorders	Zhu, S Deng, MR Law, HY Poon, E Lo, J Liang, R Kwong, AKY Ng, K Tse, H Chan, GCF Chan, HSS	2020
Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese Journal:npj Genomic Medicine	YU, MHC TSANG, MHY Lai, S Ho, MSP Tse, DML Willis, B Kwong, AKY Chou, YY Lin, SP Quinzii, CM Hwu, WL Chien, YH Kuo, PL Chan, VCM Tsoi, C Chong, SC Rodenburg, RJT Smetinik, J Mak, CCY Yeung, KS Fung, LF Lam, W Hui, J Lee, NC Fung, CW Chung, BHY	2019
Synthesis and biological evaluation of nicotinamide adenine dinucleotides analogues as inhibitors of CD38 Journal:Gaodeng Xuexiao Huaxue Xuebao/Chemical Journal of Chinese Universities	Chen, Z Kwong, AKY Yang, ZJ Zhang, LR Lee, HC Zhang, LH	2012

Showing results 1 to 20 of 20