Browsing by Author YU, MHC

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Showing results 1 to 15 of 15
TitleAuthor(s)Issue DateViews
 
2020
12
 
Actionable pharmacogenetic variants in Hong Kong Chinese exome sequencing data and projected prescription impact in the Hong Kong population (e-poster)
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
6
 
Clinical utility of whole-genome sequencing for cytogenetically balanced chromosomal abnormalities in genetic 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 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
 
2020
13
 
Detecting expansion of short tandem repeat in whole exome sequencing data of movement disorder cohort with bioinformatics tool expansion hunter
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
5
 
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
 
2020
37
 
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
4
 
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
 
2020
26
 
2019
8
 
Next generation sequencing in prenatal diagnosis
Proceeding/Conference:American Society of Human Genetics Annual Meeting, ASHG2017
2017
22
 
2019
52
 
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