Browsing by Author Lo, IFM

Jump to: 0-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
Showing results 1 to 20 of 20
TitleAuthor(s)Issue DateViews
 
2017
20
 
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
90
 
2006
142
 
2013
80
 
2014
84
 
Massive parallel sequencing for the genetic diagnosis of rasopathies: a study of 58 Chinese patients in Hong Kong
Proceeding/Conference:Annual Scientific Meeting of the Canadian College of Medical Geneticists, CCMG 2013
2013
54
 
2016
31
 
2006
80
 
2005
116
 
2015
22
NSD1+/- DNA methylation (DNAm) signature: A novel functional diagnostic tool for Sotos syndrome
Proceeding/Conference:Annual Meeting of the American Society of Human Genetics, ASHG 2014
2014
99
 
28-Jan-2014
60
 
2015
105
 
2013
32
 
Silver-Russell syndrome in Hong Kong
Journal:Hong Kong Medical Journal
2016
13
 
2014
45
 
Territory wide study of patients with dystrophinopathy in Hong Kong
Proceeding/Conference:Neuromuscular Disorders
2013
50
 
Two cases of spondylothoracic dysostosis (Jarcho Levin syndrome) in Chinese population
Proceeding/Conference:Asia Pacific Conference on Human Genetics, 2010
2011
55
 
2012
81
 
2018
27