Browsing by Author LEUNG, KC

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TitleAuthor(s)Issue Date
 
2017
 
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
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
 
2015
 
Contribution of gain-of-function mutations in R1T1 to the pathogenesis of Noonan syndrome: a report of 3 new Chinese patients in Hong Kong
Proceeding/Conference:HKU Department of Paediatrics & Adolescent Medicine Golden Jubilee Scientific Meeting
2014
 
2013
 
2019
 
2016
 
2013
 
2004
 
2004
 
2014
 
2008
 
2018
 
2019
 
2016
 
2013
 
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
 
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
 
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