Showing results 10 to 29 of 41
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| Title | Author(s) | Issue Date | |
|---|---|---|---|
Comprehensive Paediatric Epilepsy Program in Hong Kong West Cluster: Queen Mary Hospital/Duchess of Kent Children's Hospital - Development of Paediatric Epilepsy Surgery Program 1997-2007 Proceeding/Conference:National Child Neurology Congress | 2007 | ||
Copy number variation in Hong Kong patients with autism spectrum disorder Proceeding/Conference:Hong Kong Journal of Paediatrics (New series) | 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 | 2018 | ||
Dravet syndeome: genetic analysis of SCN1A and PCDH19 mutations for 17 Chinese children Proceeding/Conference:Hong Kong Medical Journal | 2012 | ||
Dravet syndrome - genetic analysis of SCN1A and PCDH19 mutations for 17 Chinese children Proceeding/Conference:Developmental Medicine and Child Neurology | 2012 | ||
Dravet Syndrome-Genetic analysis of SCN1A and PCDH19 mutations for 17 Chinese children Proceeding/Conference:International Meeting for Autism Research | 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) | 2020 | ||
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 | 2019 | ||
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 | 2016 | ||
Infantile convulsion choreoathetosis syndrome in a Hong Kong Chinese Family Proceeding/Conference:ACGA-HKSMG 2008 International Conference | 2008 | ||
Infantile Convulsion Choreoathetosis Syndrome in a Hong Kong Chinese Family Proceeding/Conference:Annual Meeting of the American Society of Human Genetics, ASHG 2009 | 2009 | ||
Infantile convulsion choreoathetosis syndrome in a Hong Kong Chinese family Proceeding/Conference:Asian & Oceanian Epilepsy Congress, AOEC 2008 | 2008 | ||
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 | 2019 | ||
Neuromuscular involvement in children with mitochondrial disease: A single centre experience Proceeding/Conference:14th Asian and Oceanian Congress of Child Neurology | 2017 | ||
A new presentation of 6-pyruvoyl tetrahydropterin synthase (PTPS) deficiency - Dopa Responsive Dystonia (DRD) Proceeding/Conference:Journal of Inherited Metabolic Disease | 2007 | ||
A rare cause of hepatosplenomegaly - transaldolase deficiency Proceeding/Conference:Journal of Inherited Metabolic Disease | 2007 | ||
A rare cause of hepatosplenomegaly - transaldolase deficiency Proceeding/Conference:Annual Symposium of Society for the Study of Inborn Errors of Metabolism, SSIEM 2007 | 2007 | ||
A rare cause of hepatosplenomegaly transaldolase deficiency Proceeding/Conference:Joint Annual Scientific Meeting for Paediatricians & Paediatric Nurses | 2007 | ||
A rare presentation of 6-pyruvoyl tetrahydropterin synthase (PTPS) deficiency - Dopa Responsive Dystronia (DRD) Proceeding/Conference:Joint Annual Scientific Meeting for Paediatricians & Paediatric Nurses | 2007 | ||
Review of 17 children with cyclic vomiting syndrome Proceeding/Conference:Chinese Paediatric Forum | 1996 |