Browsing by Author Lo, IFM

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Showing results 1 to 18 of 18
TitleAuthor(s)Issue DateViews
 
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
69
 
2006
111
 
2013
55
 
2014
60
 
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
32
 
2016
23
 
2006
59
 
2005
137
 
2015
14
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
80
 
28-Jan-2014
39
 
2015
65
 
2013
25
 
Silver-Russell syndrome in Hong Kong
Journal:Hong Kong Medical Journal
2016
7
 
2014
25
 
Territory wide study of patients with dystrophinopathy in Hong Kong
Proceeding/Conference:Neuromuscular Disorders
2013
42
 
Two cases of spondylothoracic dysostosis (Jarcho Levin syndrome) in Chinese population
Proceeding/Conference:Asia Pacific Conference on Human Genetics, 2010
2011
54
 
2012
60