Showing results 1 to 9 of 9
| Title | Author(s) | Issue Date | Views | |
|---|---|---|---|---|
A novel role of CC2D1A in human heterotaxy and ciliary dysfunction 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 | 47 | ||
A three-year follow up study on 104 exome-sequenced patients with paediatric-onset diseases: Exome reanalysis and the impacts on clinical management and outcome Proceeding/Conference:European Human Genetics Virtual Conference: ESHG 2020.2 - Live in your Living Room, 2020 | 2020 | 64 | ||
Actionable pharmacogenetic variants in Hong Kong Chinese exome data and projected prescription impact in the Hong Kong population leading to precision medicine Proceeding/Conference:Royal College of Paediatrics and Child Health (RCPCH) International Conference & the 9th Singapore Paediatric & Perinatal Annual Congress | 2021 | 25 | ||
Actionable secondary findings in Hong Kong Chinese based on exome sequencing data 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 | 4 | ||
Evaluating the diagnostgic impact and cost of rapid whole-exome sequencing for rare genetic diseases in Hong Kong 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 | |||
Exome sequencing identifies compound heterozygous DYNC2H1 variants associated with short-rib polydactyly syndrome type III with involvement of omphalocele in a fetus. Proceeding/Conference:23rd Internatinal Conference on Prenatal Diagnosis and Therapy (ISPD 2019) | 2019 | |||
Novel damaging mutations in CC2D1A suggest a role in human heterotaxy and ciliary dysfunction Proceeding/Conference:American Society of Human Genetics (ASHG) Virtual Meeting, 2020 | 2020 | 20 | ||
Reanalyzing clinical whole exome sequencing (WES) data aprovides additional diagnosis in paediatric-onset undiagnosed diseases – a Yale-HKU collaborative study 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 | |||
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 |