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| 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 | |||
A significant inflation in TGM6 genetic risk casts doubt in its causation in spinocerebellar ataxia type 35 Journal:Parkinsonism & Related Disorders | 2019 | 83 | ||
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 | |||
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 | 1 | ||
| 2021 | 7 | |||
Actionable secondary findings in 1116 Hong Kong Chinese based on exome sequencing data Journal:Journal of Human Genetics | 2020 | 8 | ||
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 | ||
Application of whole exome sequencing in neuromuscular disorders patients in Hong Kong 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 | 1 | ||
Cochlear Implantation in Chronic Suppurative Otitis Media with Cholesteatoma Book:Adult Audiology Casebook (2nd edition) | 2020 | 38 | ||
Cochlear implantation in meningitis caused by Streptococcus Suis. Book:Adult Audiology Casebook (2nd edition) | 2020 | 37 | ||
COQ10 deficiency due to biallelic COQ4 mutations – An early onset mitochondrial disorder common in southern Chinese due to a founder mutation 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 | |||
Electromagnetic emissions from the IC packaging Proceeding/Conference:Electrical Design of Advanced Packaging and Systems Symposium Proceedings | 2012 | 38 | ||
| 2021 | 16 | |||
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 | 10 | ||
Exome sequencing identifies molecular diagnosis in children with drug-resistant epilepsy Journal:Epilepsia Open | 2019 | 28 | ||
| 2003 | 106 | |||
Fundamental components of the IC packaging electromagnetic interference (EMI) analysis Proceeding/Conference:IEEE Topical Meeting on Electrical Performance of Electronic Packaging Proceedings | 2012 | 56 | ||
| 2018 | 12 | |||
Integrating Functional Analysis in the Next-Generation Sequencing Diagnostic Pipeline of RASopathies Journal:Scientific Reports | 2018 | 8 |