Browsing by Author Luk, HM

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TitleAuthor(s)Issue DateViews
 
A prenatal case of Noonan syndrome with cystic hygroma and normal karyotype
Proceeding/Conference:1st BCM-CUHK (Baylor College of Medicine-The Chinese University of Hong Kong) Joint Symposium in Clinical Genetics and Birth Defects, 2017
2017
2
 
2018
26
 
2012
43
 
2015
50
 
Clinical Quiz - What is the Diagnosis?
Journal:Hong Kong Journal of Paediatrics (New series)
2014
56
 
Computer-aided facial recognition of Chinese individuals with Angelman Syndrome in Hong Kong
Proceeding/Conference:Asian Society for Pediatric Research & Faculty of Medicine Ramathibodi Hospital Joint Meeting, ASPR 2016
2016
17
 
Computer-aided facial recognition of Chinese individuals with Angelman syndrome in Hong Kong
Proceeding/Conference:Annual Scientific Meeting of the Hong Kong College of Paediatricians cum Hong Kong-Guangdong-Shanghai-Chongqing Paediatric Exchange Meeting, 2016
2016
9
 
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
86
 
Cover Image, Volume 176A, Number 5, May 2018
Journal:American Journal of Medical Genetics Part A
2018
2
 
2013
75
 
Experience of chromosomal microarray applied in prenatal and postnatal settings in Hong Kong
Journal:American Journal of Medical Genetics Part C: Seminars in Medical Genetics
2019
 
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
 
2014
74
 
2018
8
 
2018
5
 
2016
30
 
2018
8
 
2019
 
2015
22
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
90