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Title | Author(s) | Issue Date | Views | |
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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 | |||
Epidemiology and outcome of post-transplant lymphoproliferative disorders in pediatric liver transplant receipient Proceeding/Conference:British Journal of Haematology Supplement | 2015 | |||
Reanalyzing clinical whole exome sequencing (WES) data provides additional diagnosis in paediatric-onset undiagnowed diseases – A Yale-HKU collaboration Proceeding/Conference:Asia-Pacific Conference on Human Genetics (APCHG) 2019 | 2019 | |||
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 | |||
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 | |||
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 | |||
Hong Kong childhood stroke registry - a study of 50 cases (1991-2002) Proceeding/Conference:Hong Kong Medical Journal | 2004 | 96 | ||
Identifying genetic mutations in patients with rasopathies using a next generation sequencing diagnostic pipeline in Hong Kong Proceeding/Conference:ASPR-JPS 2015 Joint Meeting | 2015 | |||
NGS in Prenatal Diagnosis/reproductive Genetics Proceeding/Conference:Asia-Pacific Conference on Human Genetics, APCHG 2017 | 2017 | |||
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 | 27 | ||
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 | 97 | ||
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 | 44 | ||
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 | ||
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 | 40 | ||
Bioinformatic pipeline for the identification of transcription factor binding sites in mouse and human Proceeding/Conference:HKPS-HKPNA 2006 Joint Annual Scientific Meeting | 2006 | |||
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 | 8 | ||
NSD1 mutations in Sotos syndrome alter the DNA methylation landscape of genes involved in somatic growth and neuronal transmission Proceeding/Conference:Annual Meeting of the American Society of Human Genetics, ASHG 2012 | 2012 | 36 | ||
NGS in Paediatrics - discoveries and challenges Proceeding/Conference:International Symposium in Kanagawa 2017: The Progress of Neonatal Medicine in Asia | 2017 | 23 | ||
Contribution of birth defects (BDs) and genetic diseases (GDs) to paediatric hospitalization in Hong Kong (HK) Proceeding/Conference:International Congress of Pediatrics, IPA 2007 | 2007 | 78 | ||
Crosstalk between histone modifications and DNA methylation in patients with intellectual disability due to JARID1C mutations Proceeding/Conference:Annual Scientific Meeting of the Canadian College of Medical Geneticists, CCMG 2010 | 2010 | |||
Genetic Couselling in Hong Kong Proceeding/Conference:APCHG 2015: Genetic Counseling Pre-conference Workshop | 2015 | 31 | ||
Genetic thrombophilic risk factors in Chinese children with malignant illness Proceeding/Conference:Hong Kong Medical Genetics Conference | 2005 | 99 | ||
Somatic mosaicism of PIK3CA mutation in PIK3CA-related overgrowth disorders Proceeding/Conference:Annual Scientific Meeting of the Hong Kong College of Paediatricians, HKCPaed 2014 | 2014 | 72 |