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| Title | Author(s) | Issue Date | |
|---|---|---|---|
Genetic Counselling Proceeding/Conference:Symposium on 'Frontiers in Assisted Reproduction & Reproductive Genetics' | 2014 | ||
Reanalyzing clinical whole exome sequencing (WES) data aprovides additional diagnosis in paediatric-onset undiagnosed diseases – a Yale-HKU collaborative study 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 | ||
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 | ||
Diagnostic outcome of whole exome sequencing in Hong Kong familes with autism spectrum disorder 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 | ||
Collagen VI and XII related myopathies: clinical variability and novel variants found in Hong Kong patients 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 | ||
Evaluating the diagnostgic impact and cost of rapid whole-exome sequencing for rare genetic diseases in Hong Kong 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 | ||
Genetics in Children and Adolescents Proceeding/Conference:AGM cum Seminar & Dinner | 2015 | ||
Identifying the genetic causes underlying prenatally-diagnosed structural congenital anomalies (SCAs) by whole-exome sequencing (WES) Proceeding/Conference:Health Research Symposium, 2019 | 2019 | ||
Muddling Through Muscle Genes – The Quest For Diagnosis In 50 Patients With Neuromuscular Disorders Using Whole Exome Sequencing. Proceeding/Conference:Asian Oceanian Congress of Child Neurology | 2019 | ||
The delivery of genetic counselling in Hong Kong from an interdisciplinary perspective Proceeding/Conference:2nd World Congress on Genetic Counselling: Exploring the evidence that guides genetic counselling to improve patient care | 2019 | ||
Genomic medicine: A Hong Kong Story on how international collaboration has resulted in improved diagnosis, better patient management and discovery of new syndromes Proceeding/Conference:Genetics Clinical Grand Rounds, Department of Genetics, Yale School of Medicine | 2019 | ||
Genetic thrombophilic risk factors in Chinese children with malignant illness Proceeding/Conference:Hong Kong Medical Genetics Conference | 2005 | ||
Diffusion tensor MR imaging in the evaluation of Wallerian degeneration in pediatric strokes: work-in-progress Proceeding/Conference:ISMRM 2003 Annual Meeting & Exhibition Proceedings | 2003 | ||
Inherited Thrombophilia Does Not Increase Catheter Thrombosis in Chinese Children with malignancies Proceeding/Conference:1st Annual Congress of the Asian Society for Pediatric Research, ASPR 2005 | 2005 | ||
Evaluation of Wallerian degeneration in paediatric middle cerebral artry (MCA) strokes using diffusion tensor MRI (DTI) and correlation with neuromotor outcome Proceeding/Conference:Congress of Asian & Oceanic Society for Pediatric Radiology, AOSPR 2003 | 2003 | ||
Evaluation of Wallerian degeneration in paediatric middle cerebral artery artery (MCA) strokes using diffusion tensor MRI (DTI) and correlation with neuromotor outcome Proceeding/Conference:Annual Scientific Meeting of the Hong Kong College of Radiologists, HKCR 2003 | 2003 | ||
Acute fulminant SSPE with absent measels and PCR studies in cerebrospinal fluid Proceeding/Conference:50th Anniversary Symposium on Paediatric Neurology & Neuro-Rehabilitation | 2005 | ||
Genetic thrombophilic risk factors in Chinese children with malignant illness Proceeding/Conference:HKPS/HKPNA 2006 Joint Annual Scientific Meeting | 2006 | ||
Renal dysplasia - coarctation of aorta. A new association/syndrome: a report of 6 cases Proceeding/Conference:Annual Meeting of the American Society for Human Genetics, ASHG 2008 | 2008 | ||
Brachytelephalangic chondrodysplasia punctua. A rare X-linked skeletal dysplasia presenting as piriform aperture stenosis and caused by mutation in the arylsulfatase E (ARSE) gene Proceeding/Conference:Annual Meeting of the American Society for Human Genetics, ASHG 2008 | 2008 | ||
Management of malformation in Down syndrome Proceeding/Conference:World Down Syndrome Day International Symposium | 2014 | ||
Recent researches in the treatment of Down syndrome Proceeding/Conference:World Down Syndrome Day International Symposium | 2014 | ||
Standardised tool for measurement of rare genetic disease costs: development, contextualisation, translation, and validation of the Client Service Receipt Inventory Proceeding/Conference:The 54th European Society of Human Genetics (ESHG) 2021 Virtual Conference | 2021 | ||
Genomics and Genetic Counseling -Evolution to Whole Exome/Genome Proceeding/Conference:The 6th Annual International Conference of the Board of Genetic Counselling (BGC) India 2021 | 2021 | ||
Evaluating the clinical utility of genome sequencing for cytogenetically balanced chromosomal abnormalities in prenatal diagnosis Proceeding/Conference:Health Research Symposium 2021 | 2021 |