Browsing by Author Lo, IFM

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TitleAuthor(s)Issue DateViews
 
2020
80
 
2018
97
 
Coffin–Lowry syndrome in Chinese
Journal:American Journal of Medical Genetics Part A
2019
37
 
Collagen VI related myopathy: Clinical variability of triple helical domain mutations of COL6A mutations
Proceeding/Conference:International Child Neurology Congress. Mumbai, India. 2018
2019
32
 
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
84
 
2006
211
 
2022
2
 
2020
22
 
2013
66
 
2021
30
 
2014
123
 
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
48
 
2016
63
 
2006
66
 
Mowat-Wilson syndrome in a Chinese population: A case series
Journal:American Journal of Medical Genetics Part A
2020
52
 
2005
149
 
2015
79
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
73
 
2021
18
 
28-Jan-2014
82