Showing results 1 to 13 of 13
Title | Author(s) | Issue Date | |
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Before and after – Nutritional transformation of dysmorphism in a case of Costello syndrome Journal:European Journal of Medical Genetics | 2016 | ||
2021 | |||
2022 | |||
Healthcare burden of rare diseases in Hong Kong – adopting ORPHAcodes in ICD-10 based healthcare administrative datasets Journal:Orphanet Journal of Rare Diseases | 2018 | ||
Healthcare burden of rare diseases in Hong Kong – Adopting orphacodes in ICD-10 based healthcare administrative datasets 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 | ||
Infantile to late adulthood onset facioscapulohumeral dystrophy type 1: a case series Journal:Hong Kong Med J | 2021 | ||
2018 | |||
2021 | |||
The prevalence and healthcare utilization of rare neurological diseases in Hong Kong: 2014-2018 Proceeding/Conference:Joint Annual Scientific Meeting 2020 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 | ||
Use of chromosomal microarray in Hong Kong patients with autism spectrum disorder - implication of a copy number variation involving DPP10 Proceeding/Conference:Annual Meeting of the American Society of Human Genetics, ASHG 2016 | 2016 | ||
2017 | |||
Use of clinical chromosomal microarray in Hong Kong Chinese patients with autism spectrum disorder - implication of a copy number variation involving DPP10 Proceeding/Conference:Asian Society for Pediatric Research & Faculty of Medicine Ramathibodi Hospital Joint Meeting, ASPR 2016 | 2016 | ||
What is the Diagnosis? Journal:Hong Kong Journal of Paediatrics (New series) | 2016 |