Showing results 1 to 20 of 73
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| Title | Author(s) | Issue Date | Views | |
|---|---|---|---|---|
A case of G1013R FBN1 mutation: A potential genotype-phenotype correlation in severe Marfan syndrome Journal:American Journal of Medical Genetics Part A | 2020 | 36 | ||
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 | 22 | ||
A pilot study on the clinical utility of blocker displacement amplification to detect rare alleles in mosaicism 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 | 13 | ||
A significant inflation in TGM6 genetic risk casts doubt in its causation in spinocerebellar ataxia type 35 Journal:Parkinsonism & Related Disorders | 2019 | 83 | ||
| 2020 | 12 | |||
Actionable pharmacogenetic variants in Hong Kong Chinese exome sequencing data and projected prescription impact in the Hong Kong population (e-poster) 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 | 17 | ||
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 | 19 | ||
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 | 54 | ||
Mirzaa, GMCampbel, CSolovieff, NGoold, CPJansen, LAMenon, STimms, AEConti, VBiag, JDOlds, CBoyle, EACollins, SIshak, GPoliachik, SLGirisha, KMYEUNG, KSChung, BHYRahikkala, EGunter, SAMcDaniel, SSMacmurdo, CFBernstein, JAMartin, BLeary, RJMahan, SLiu, SWeaver, MDorschner, MOJhangiani, SMuzny, DMBoerwinkle, EGibbs, RALupski, JRShendure, JSaneto, RPNovotny, EJWilson, CJSellers, WRMorrissey, MPHevner, RFOjemann, JGGuerrini, RMurphy, LOWinckler, WDobyns, WB | 2016 | 93 | ||
Blood cell type-specific genome-wide DNA methylation analysis of Chinese patients with early-onset systemic lupus erythematosus identifies loss of DNA methylation in genes related to the Type I Interferon pathway Proceeding/Conference:American Society of Human Genetics Annual Meeting, ASHG2017 | 2017 | 45 | ||
| 2018 | 57 | |||
| 2019 | 39 | |||
CFTR founder mutation causes protein trafficking defects in Chinese patients with cystic fibrosis Journal:Molecular Genetics & Genomic Medicine | 2017 | 129 | ||
Coexistence of paternally-inherited ABCC8 mutation and mosaic paternal uniparental disomy 11p hyperinsulinism Journal:International Journal of Pediatric Endocrinology | 2020 | 18 | ||
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 | 30 | ||
De novo large rare copy-number variations contribute to conotruncal heart disease in Chinese patients Journal:npj Genomic Medicine | 2016 | 83 | ||
| 2020 | 13 | |||
Design and complexity optimization of a new digital IF for software radio receivers with prescribed output accuracy Journal:IEEE Transactions on Circuits and Systems I: Regular Papers | 2007 | 175 | ||
Design and implementation of multiplier-less tunable 2-D FIR filters using McClellan transformation Proceeding/Conference:Proceedings - IEEE International Symposium on Circuits and Systems | 2002 | 162 |