Browsing by Author Mak, CCY

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TitleAuthor(s)Issue DateViews
 
2022
4
 
Genetic diagnosis of drug-resistant epilepsy by whole exome sequencing and chromosomal array 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
47
 
Genetic diagnosis of early onset epilepsy by whole exome sequencing and chromosomal array in Hong Kong
Proceeding/Conference:Asian Society for Pediatric Research & Faculty of Medicine Ramathibodi Hospital Joint Meeting, ASPR 2016
2016
31
 
Genetic landscape of RASopathies in Chinese: Three decades' experience in Hong Kong
Journal:American Journal of Medical Genetics Part C: Seminars in Medical Genetics
2019
81
 
Genetic literacy and awareness of personalized medicine among undergraduates 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
32
 
2017
137
 
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
 
Identification of a CFTR founder mutations, c.3068T>G:p.I1023R, which causes protein trafficking defects in Chinese patients with cystic fibrosis
Proceeding/Conference:Asian Society for Pediatric Research & Faculty of Medicine Ramathibodi Hospital Joint Meeting, ASPR 2016
2016
67
 
Identification of epigenetic alterations in imprinting growth disorders
Proceeding/Conference:HKU Department of Paediatrics & Adolescent Medicine Golden Jubilee Scientific Meeting
2014
24
 
2017
75
 
2018
111
 
2018
100
 
2020
49
 
2020
33
 
2019
45
 
Mutations in ATP6V1E1 or ATP6V1A cause AR cutis laxia
Proceeding/Conference:Asian Society for Pediatric Research & Faculty of Medicine Ramathibodi Hospital Joint Meeting, ASPR 2016
2016
45
 
2017
83
 
Next generation sequencing in prenatal diagnosis
Proceeding/Conference:American Society of Human Genetics Annual Meeting, ASHG2017
2017
52
 
Novel damaging mutations in CC2D1A suggest a role in human heterotaxy and ciliary dysfunction
Proceeding/Conference:American Society of Human Genetics (ASHG) Virtual Meeting, 2020
2020
20
 
2018
132