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TitleAuthor(s)Issue DateViews
 
Coffin–Lowry syndrome in Chinese
Journal:American Journal of Medical Genetics Part A
2019
31
 
Collagen VI related myopathy: Clinical variability of triple helical domain mutations of COL6A mutations
Proceeding/Conference:International Child Neurology Congress. Mumbai, India. 2018
2019
27
 
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
130
 
2006
234
 
2013
74
 
2014
149
 
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
64
 
2016
72
 
2006
78
 
Mowat-Wilson syndrome in a Chinese population: A case series
Journal:American Journal of Medical Genetics Part A
2020
38
 
2005
135
 
2015
75
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
87
 
28-Jan-2014
92
 
2015
122
 
2013
32
 
Silver-Russell syndrome in Hong Kong
Journal:Hong Kong Medical Journal
2016
60
 
2014
78
 
Territory wide study of patients with dystrophinopathy in Hong Kong
Proceeding/Conference:Neuromuscular Disorders
2013
53
 
Two cases of spondylothoracic dysostosis (Jarcho Levin syndrome) in Chinese population
Proceeding/Conference:Asia Pacific Conference on Human Genetics, 2010
2011
141