Browsing by Author Lam, STS

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TitleAuthor(s)Issue DateViews
 
1992
183
 
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
106
 
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
118
 
2006
166
 
2007
131
 
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
110
2008
141
 
2009
98
 
2014
148
 
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
63
 
2006
77
 
1989
142
 
2005
135
 
2015
74
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
86
 
2013
31
 
2009
167
 
Spontaneous growth in Chinese patients with Turner's syndrome and influence of karyotype
Journal:Acta Paediatrica, International Journal of Paediatrics
1997
193
 
2006
107