Showing results 3 to 22 of 30
< previous
next >
| Title | Author(s) | Issue Date | |
|---|---|---|---|
Children with mesial temporal sclerosis (MTS) in an epilepsy cohort - a different clinical spectrum? Proceeding/Conference:50th Anniversary Symposium on Paediatric Neurology & Neuro-Rehabilitation | 2005 | ||
Clinical and genetic evaluation of 23 children with infantile onset epileptic encephalopathy Proceeding/Conference:Hong Kong Medical Journal | 2013 | ||
Clinical profile of 13 children with severe myoclonic epilepsy of infancy in Hong Kong Proceeding/Conference:Asian & Oceanian Epilepsy Congress, AOEC 2010 | 2010 | ||
The clinical utility of radiologic screening in asymptomatic neurofibromatosis-1 (NF-1) Proceeding/Conference:Annual Meeting of the Society for Pediatric Radiology, SPR 2002 | 2002 | ||
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 | 2019 | ||
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 | ||
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 | ||
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:Annual Symposium of Society for the Study of Inborn Errors of Metabolism, SSIEM 2007 | 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: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 |