Browsing by Author Fung, JLF

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TitleAuthor(s)Issue DateViews
 
2021
16
 
2021
44
 
2021
44
 
Expanded carrier screening panels and the prevention of inherited monogenic diseases: The first key in precision medicine evaluated using 1116 Hong Kong Chinese exome sequencing data
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
53
 
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
7
 
2021
30
 
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
33
 
How common is mosaicism? The 9 years-experience in a university affiliated genetic clinic 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
62
 
2020
36
 
2021
18
 
2021
32
 
Retrospective cohort analysis on couples seeking pre-implantation genetic testing over a 5-year period
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
25
 
Rubinstein–Taybi syndrome in diverse populations
Journal:American Journal of Medical Genetics Part A
2020
26
 
The different facets of 'culture' in genetic counseling: A situated analysis of genetic counseling in Hong Kong
Journal:American Journal of Medical Genetics Part C: Seminars in Medical Genetics
2019
72
 
2020
49
 
The KLHL40C.1516A>C is a Chinese-specific founder mutation in causing nemaline myopathy 8
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
36
 
2021
62