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Results 1-25 of 478 (Search time: 0.027 seconds).

TitleAuthor(s)Issue DateViews
 
Clinical approach on skeletal dysplasia from the viewpoint of clinical genetics
Proceeding/Conference:1st Gachon Skeletal Dysplasia Symposium
2014
62
 
2013
198
 
2017
84
 
2017
61
 
22q11.2 deletion syndrome in diverse populations
Journal:American Journal of Medical Genetics Part A
2017
99
 
2017
78
 
A feasibility study for rapid Whole-Exome Sequencing for paediatric genetic disorders in Hong Kong
Proceeding/Conference:European Human Genetics Conference, ESGH 2017
2017
79
 
2002
38
 
NGS in Paediatrics - discoveries and challenges
Proceeding/Conference:International Symposium in Kanagawa 2017: The Progress of Neonatal Medicine in Asia
2017
22
 
Infant onset pancytopenia: a case report of fanconi anaemia managed with matched-sibling cord blood transplantation
Proceeding/Conference:HKU Department of Paediatrics & Adolescent Medicine Golden Jubilee Scientific Meeting
2014
72
 
Unveiling the genetics of long QT syndrome: a local paediatric experience
Proceeding/Conference:Hong Kong Journal of Paediatrics (New series)
2013
52
2013
108
Unveiling the genetics of long QT syndrome: a local paediatric experience
Proceeding/Conference:Journal of the Hong Kong College of Cardiology
2012
166
 
2003
131
 
The first reported case of the DRAGON gene deletion in human. A case with a de-novo interstitial deletion of chromosome 5q15-21.1
Proceeding/Conference:Annual Meeting of the American Society of Human Genetics, ASHG 2009
2009
60
 
2004
198
 
2008
128
 
2007
143
 
Hong Kong childhood stroke registry - a study of 50 cases (1991-2002)
Proceeding/Conference:Hong Kong Medical Journal
2004
106
 
A DYNC1H1 mutation causes a lower extremity predominance spinal muscular atrophy
Proceeding/Conference:Annual Scientific Meeting of the Asian and Oceanian Myology Center, AOMC 2016
2016
73
 
2017
130
 
What is the Diagnosis?
Journal:Hong Kong Journal of Paediatrics (New series)
2016
41
 
2015
135
 
What is the Diagnosis ? - 1P36 deletion
Journal:Hong Kong Journal of Paediatrics (new series)
2015
43
 
What is the Diagnosis?
Journal:Hong Kong Journal of Paediatrics (New series)
2012
55