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Showing results 37 to 56 of 97 < previous next >

Title	Author(s)	Issue Date	Views
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	183
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	2
Identification of SCN1A and PCDH19 mutations in Chinese children with Dravet syndrome Journal:PLoS ONE	Kwong, AKY Fung, CW Chan, SY Wong, VCN	2012	63
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	23
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	181
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	130
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	157
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	54
Kbg syndrome: Clinical features and specific dental findings Journal:Pediatric Dentistry	Almandey, HA Anthonappa, RP King, NM Fung, CW	2010	188
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	84
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	56
Megaconial Congenital Muscular Dystrophy: Same Novel Homozygous Mutation In Chkb Gene In Two Unrelated Chinese Patients Journal:Neuromuscular Disorders	Chan, HSS Ho, RSL Khong, PL Chung, BHY TSANG, MHY YU, MHC Yeung, MCY Chan, AOK Fung, CW	2020	46
Minimum Configuration Design for Digital Control of Power Converters Proceeding/Conference:International Exhibition and Conference for Power Electronics, Intelligent Motion and Power Quality (PCIM Europe 2007). Proceedings of a meeting held 22-24 May 2007, Nuremberg, Germany	Fung, CW Liu, CP Pong, MH	2007	123
A modified screening tool for autism (Checklist for Autism in Toddlers [CHAT-23]) for Chinese children. Journal:Pediatrics	Wong, V Hui, LH Lee, WC Leung, LS Ho, PK Lau, WL Fung, CW Chung, B	2004	190
MR imaging of spinal tumors in children with neurofibromatosis I Journal:American Journal of Roentgenology	Khong, PL Goh, WHS Wong, VCN Fung, CW Ooi, GC	2003	105
Mutation of the LDHD gene in a Chinese girl with global developmental delay, transient hepatomegaly, hyperlactataemia and mitochondrial complex IV deficiency Proceeding/Conference:The 16th Conference of Asian Society for Mitochondrial Research and Medicine (ASMRM) & The 19th Conference of Japanese Society of Mitochondrial Research and Medicine (J-mit), 2019	Kwong, KY RODENBURG, RJT SMEITINK, J Fung, CW	2019	2
Mycophenolate mofetil inhibits nitric oxide generation during renal ischemia repefusion injury Proceeding/Conference:Transplantation	Lui, SL Zhang, HX Chan, L Zhu, W Chan, DTM Fung, CW Lai, KN	1999	112
NDUFA9 point mutations cause a variable mitochondrial complex I assembly defect Journal:Clinical Genetics	Baertling, F Sánche-Caballero, L van den Brand, MAM Fung, CW Chan, HSS Wong, CNV Hellebrekers, DME de Coo, IFM Smeitink, JAN AM Rodnburg, RJT Nijtmans, LGJ	2018	70

Showing results 37 to 56 of 97 < previous next >