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Results 1-25 of 543 (Search time: 0.039 seconds).

TitleAuthor(s)Issue DateViews
 
Clinical uncertainty and familial interactions in the inherited cardiac conditions clinic in Hong Kong: reconsidering individualised notions of autonomy
Proceeding/Conference:European Human Genetics Conference in conjunction with the European Meeting on Psychosocial Aspects of Genetics
2018
40
2015
49
 
2019
30
 
Two cases of vascular emergency highlighting the importance of TGF-beta signaling pathway
Proceeding/Conference:HKSMG 2012 AGM & Clinical Genetics Showcase Series - 1st Episode
2012
22
 
Comprehensive genetic evaluation in paediatric-onset mitochondrial diseases
Proceeding/Conference:Joint Annual Scientific Meeting 2019 of The Hong Kong Paediatric Society, Hong Kong College of Paediatricians, Hong Kong Paediatric Nurses Association, & Hong Kong College of Paediatric Nursing
2019
50
 
Excellence in T&L - Building your teaching portfolio
Proceeding/Conference:Professional Development Programme in Medical Education, Bau Institute of Medical & Health Sciences Education, LKS Faculty of Medicine, HKU
2021
6
 
Hong Kong childhood stroke registry - a study of 50 cases (1991-2002)
Proceeding/Conference:Hong Kong Medical Journal
2004
89
 
2015
16
 
2014
42
 
NGS in Prenatal Diagnosis/reproductive Genetics
Proceeding/Conference:Asia-Pacific Conference on Human Genetics, APCHG 2017
2017
20
 
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
 
In the shadow of MEF2C: Genotype-phenotype correlation for 5q14.3q21 deletions
Proceeding/Conference:Annual Meeting of the American Society of Human Genetics, ASHG 2013
2013
22
 
Discovering New Syndromes
Proceeding/Conference:Yong Leo Lin School of Medicine, National University of Singapore
2020
19
 
Aetiology of ASD: can genetic studies help?
Proceeding/Conference:Hong Kong Journal of Paediatrics (new series)
2011
91
 
From heterotaxy to VACTER-H syndrome: the clinical variability of ZIC3-related disorders
Proceeding/Conference:Annual Meeting of the American Society of Human Genetics, ASHG 2009
2009
39
 
2022
1
 
A girl with multiple epiphyseal dysplasia due to novel C.955G >T mutation in the cartilage oligomeric matrix protein
Proceeding/Conference:2nd Joint Annual Research & Scientific Meeting 2018 of the Hong Kong Paediatric Society, Hong Kong College of Paediatricians, Hong Kong Paediatric Nurses Association and Hong Kong College of Paediatric Nursing
2018
28
 
Clinical Quiz - What is the Diagnosis?
Journal:Hong Kong Journal of Paediatrics (new series)
2014
21
 
2021
56
 
25-Jun-2014
69
 
2018
58
 
Challenges faced by little people of Hong Kong: narrative medicine in clinical genetics practice
Proceeding/Conference:HKU Department of Paediatrics & Adolescent Medicine Golden Jubilee Scientific Meeting
2014
32
 
2018
96
 
Bioinformatic pipeline for the identification of transcription factor binding sites in mouse and human
Proceeding/Conference:HKPS-HKPNA 2006 Joint Annual Scientific Meeting
2006
109
 
Impact of COVID-19 pandemic on rare disease patients and organisations in ten jurisdictions across the Asia Pacific region
Proceeding/Conference:Joint Annual Scientific Meeting 2020 of The Hong Kong Paediatric Society (HKPS), Hong Kong College of Paediatricians (HKCPaed), Hong Kong Paediatric Nurses Association (HKPNA) and Hong Kong College of Paediatric Nursing (HKCPN)
2020
20