Browsing by Author Lo, IFM

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TitleAuthor(s)Issue DateViews
 
2018
57
 
Coffin–Lowry syndrome in Chinese
Journal:American Journal of Medical Genetics Part A
2019
10
 
Collagen VI related myopathy: Clinical variability of triple helical domain mutations of COL6A mutations
Proceeding/Conference:International Child Neurology Congress. Mumbai, India. 2018
2019
18
 
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
120
 
2006
201
 
2013
79
 
2014
127
 
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
67
 
2016
51
 
2006
89
 
2005
149
 
2015
54
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
111
 
28-Jan-2014
87
 
2015
143
 
2013
31
 
Silver-Russell syndrome in Hong Kong
Journal:Hong Kong Medical Journal
2016
43
 
2014
68
 
Territory wide study of patients with dystrophinopathy in Hong Kong
Proceeding/Conference:Neuromuscular Disorders
2013
66
 
Two cases of spondylothoracic dysostosis (Jarcho Levin syndrome) in Chinese population
Proceeding/Conference:Asia Pacific Conference on Human Genetics, 2010
2011
70