Browsing by Author Lam, STS

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 2 to 21 of 28 < previous   next >
TitleAuthor(s)Issue DateViews
 
2006
132
 
2015
83
 
2006
234
 
Diagnostic difficulties in Sanfilippo disease
Journal:Hong Kong Journal of Paediatrics
2006
117
 
1992
184
 
Genetic landscape of RASopathies in Chinese: Three decades' experience in Hong Kong
Journal:American Journal of Medical Genetics Part C: Seminars in Medical Genetics
2019
69
 
2006
107
 
Identification of 21 novel and 3 known FBN1 mutations in 66 unrelated Chinese probands with Marfan syndrome or Marfan-like phenotypes
Proceeding/Conference:Annual Congress of the Asian Society for Pediatric Research, ASPR 2006
2006
119
 
2006
168
 
2007
132
 
Identification of 7 novel TGFBR2 mutations in Chinese with marfan syndrome (MFS) and related phenotypes using DHPLC
Proceeding/Conference:Congress of Asian Society for Pediatric Research, ASPR 2007
2007
111
2008
142
 
2009
99
 
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
 
2006
78
 
1989
143
 
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