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Showing results 41 to 60 of 97 < previous next >

Title	Author(s)	Issue Date	Views
Identification of SCN1A and PCDH19 mutations in Chinese children with Dravet syndrome Journal:PLoS ONE	Kwong, AKY Fung, CW Chan, SY Wong, VCN	2012	52
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	18
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	168
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	124
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	128
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	42
Kbg syndrome: Clinical features and specific dental findings Journal:Pediatric Dentistry	Almandey, HA Anthonappa, RP King, NM Fung, CW	2010	175
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	75
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	45
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	110
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	163
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	92
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	23
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	106
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	59
Neurocognitive function, performance status, and quality of life in pediatric intracranial germ cell tumor survivors Journal:Journal of Neuro-Oncology	Tso, WYW Liu, APY Lee, TMC Cheuk, KL Shing, MK Luk, CW Ling, SC Ku, DTL Li, K Yung, A Fung, CW Chan, SHS Ho, ACC Ho, KWF Ip, P Chan, GCF	2019	109
Neuroimaging in Primary Coenzyme-Q10-Deficiency Disorders Journal:Antioxidants	Munch, J Prasuhn, J Laugwitz, L Fung, CW Chung, BHY Bellusci, M Mayatepek, E Klee, D Distelmaier, F	14-Mar-2023
Neuromuscular involvement in children with mitochondrial disease: A single centre experience Proceeding/Conference:14th Asian and Oceanian Congress of Child Neurology	Chiu, ATG Fung, CW Chan, HSS	2017	26
A new presentation of 6-pyruvoyl tetrahydropterin synthase (PTPS) deficiency - Dopa Responsive Dystonia (DRD) Proceeding/Conference:Journal of Inherited Metabolic Disease	Fung, CW Blau, N Siu, S Mak, CM Cheung, PT Tam, S Wong, VCN	2007	148

Showing results 41 to 60 of 97 < previous next >