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Title	Author(s)	Issue Date
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
Identification of SCN1A and PCDH19 mutations in Chinese children with Dravet syndrome Journal:PLoS ONE	Kwong, AKY Fung, CW Chan, SY Wong, VCN	2012
Improving genetic diagnosis by whole exome sequencing in rare hereditary peripheral neuropathies Proceeding/Conference:Hong Kong College of Paediatricians 4th Annual Scientific Meeting cum 5th HK-Guangdong-Shanghai-Chongquing Paediatric Exchange Meeting	Chan, HSS Fung, CW Chung, BHY	2016
Infantile convulsion choreoathetosis syndrome in a Hong Kong Chinese Family Proceeding/Conference:ACGA-HKSMG 2008 International Conference	Chung, BHY Fung, CW Ng, P Zhao, M Yang, W Wong, VCN	2008
Infantile Convulsion Choreoathetosis Syndrome in a Hong Kong Chinese Family Proceeding/Conference:Annual Meeting of the American Society of Human Genetics, ASHG 2009	Fung, CW Chung, BHY Ng, P Zhao, M Yang, W Wong, VCN	2009
Infantile convulsion choreoathetosis syndrome in a Hong Kong Chinese family Proceeding/Conference:Asian & Oceanian Epilepsy Congress, AOEC 2008	Chung, BHY Fung, CW Ng, P Zhao, M Yang, W Wong, VCN	2008
International Paediatric Mitochondrial Disease Scale Journal:Journal of Inherited Metabolic Disease	Koene, S Hendriks, JCM Dirks, I de Boer, L de Vries, MC Janssen, MCH Smuts, I Fung, CW Wong, CNV de Coo, IRFM Vill, K Stendel, C Klopstock, T Falk, MJ McCormick, EM McFarland, R de Groot, IJM Smeitink, JAM	2016
Kbg syndrome: Clinical features and specific dental findings Journal:Pediatric Dentistry	Almandey, HA Anthonappa, RP King, NM Fung, CW	2010
Lathosterolosis: A Disorder Of Cholesterol Biosynthesis Resembling Smith-lemli-opitz Syndrome Journal:Journal Of Inherited Metabolic Disease	Ho, CCA Fung, CW Siu, TS Ma, OCK Lam, CW Tam, S Wong, VCN	2014
MALDI-MS profiling of serum O-glycosylation and N-glycosylation in COG5-CDG Journal:Journal of Mass Spectrometry	Palmigiano, A Bua, RO Barone, R Rymen, D Legal, L Deconinck, N Dionisi-Vici, C Fung, CW Garozzo, D Jaeken, J Sturiale, L	2017

Showing results 30 to 49 of 97 < previous next >