Showing results 1 to 11 of 11
| Title | Author(s) | Issue Date | |
|---|---|---|---|
Chinese patients with rasopathies: Detection of 29 known and novel variants using next-generation sequencing (NGS) Proceeding/Conference:36th Annual David W. Smith Workshop | 2015 | ||
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 | ||
Collagen VI related myopathy: Clinical variability of triple helical domain mutations of COL6A mutations Proceeding/Conference:International Child Neurology Congress. Mumbai, India. 2018 | 2019 | ||
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 | ||
Computer-aided facial recognition of Chinese individuals with Angelman syndrome in Hong Kong Proceeding/Conference:Annual Scientific Meeting of the Hong Kong College of Paediatricians cum Hong Kong-Guangdong-Shanghai-Chongqing Paediatric Exchange Meeting, 2016 | 2016 | ||
Computer-aided facial recognition of Chinese individuals with Angelman Syndrome in Hong Kong Proceeding/Conference:Asian Society for Pediatric Research & Faculty of Medicine Ramathibodi Hospital Joint Meeting, ASPR 2016 | 2016 | ||
Contribution of gain-of-function mutations in R1T1 to the pathogenesis of Noonan syndrome: a report of 3 new Chinese patients in Hong Kong Proceeding/Conference:HKU Department of Paediatrics & Adolescent Medicine Golden Jubilee Scientific Meeting | 2014 | ||
Evidence of spread of X Chromosome inactivation on Chromosome 15 in a girl with an Unbalanced t(X;15) Translocation Proceeding/Conference:Hong Kong Journal of Paediatrics (New series) | 2013 | ||
Facioscapulohumeral dystrophy (FSHD) type 1 – From infantile to late adult onset 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 | ||
NSD1+/- DNA methylation (DNAm) signature: A novel functional diagnostic tool for Sotos syndrome Proceeding/Conference:Annual Meeting of the American Society of Human Genetics, ASHG 2014 | 2014 | ||
| 2013 |