Browsing by Author Mak, CCY

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TitleAuthor(s)Issue DateViews
 
2019
51
 
2017
81
 
CFTR: I1023R is a rare but recurrent disease-causing mutation found in Chinese patients with cystic fibrosis
Proceeding/Conference:Annual Scientific Meeting of the Hong Kong College of Paediatricians, HKCPaed 2014
2014
71
CFTR: p.I1023R is a rare but recurrent disease-causing mutation found in Chinese patients with Cystic Fibrosis
Proceeding/Conference:Annual Meeting of the American Society of Human Genetics, ASHG 2014
2014
106
 
Clinical and Genetic Profile of Congenital Long QT Syndrome in Hong Kong - 18-year Experience in Paediatrics
Proceeding/Conference:26th Annual Scientific Congress of Hong Kong College of Cardiology, 2018
2018
37
 
2018
94
 
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
62
 
Clinical implications of large rare copy number variations in 110 Chinese patients with conotruncal heart disease
Proceeding/Conference:Annual Scientific Meeting of the Hong Kong College of Paediatricians, HKCPaed 2014
2014
45
 
2022
12
 
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
50
 
Copy number variation in Hong Kong patients with autism spectrum disorder
Proceeding/Conference:Hong Kong Journal of Paediatrics (New series)
2016
68
 
2019
142
 
2016
82
 
2020
25
 
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
46
 
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
76
 
2022
 
2020
56
 
Evaluating High‐Confidence Genes in Conotruncal Cardiac Defects by Gene Burden Analyses
Journal:Journal of the American Heart Association Cardiovascular and Cerebrovascular Disease
21-Feb-2023
 
2021
16