Browsing by Author LEUNG, GKC

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Showing results 1 to 11 of 11
TitleAuthor(s)Issue Date
 
2017
 
Clinical application of whole exome sequencing for paediatric undiagnosed diseases in Hong Kong: experience from first sixty cases
Proceeding/Conference:Annual Scientific Meeting of the Hong Kong College of Paediatricians, HKCPaed 2015
2015
 
Copy number variation in Hong Kong patients with autism spectrum disorder
Proceeding/Conference:Hong Kong Journal of Paediatrics (New series)
2016
 
2020
 
2020
 
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
 
Identification of a novel homozygous missense mutation in ABR causing cerebellar hypoplasia with early lethality
Proceeding/Conference:Asian Society for Pediatric Research & Faculty of Medicine Ramathibodi Hospital Joint Meeting, ASPR 2016
2016
 
2016
 
2019
 
Mutation in PIK3CA leading to developmental mosaic disorders
Proceeding/Conference:Annual Scientific Meeting of the Hong Kong College of Paediatricians, HKCPaed 2015
2015
 
Next generation sequencing in prenatal diagnosis
Proceeding/Conference:American Society of Human Genetics Annual Meeting, ASHG2017
2017