Showing results 3 to 10 of 10
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| Title | Author(s) | Issue Date | Views | |
|---|---|---|---|---|
| 2022 | 12 | |||
Detecting expansion of short tandem repeat in whole exome sequencing data of movement disorder cohort with bioinformatics tool expansion hunter 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 | 46 | ||
| 2022 | ||||
Evaluating the clinical utility of genome sequencing for cytogenetically balanced chromosomal abnormalities in prenatal diagnosis Proceeding/Conference:Health Research Symposium 2021 | 2021 | 16 | ||
Expanded carrier screening panels and the prevention of inherited monogenic diseases: The first key in precision medicine evaluated using 1116 Hong Kong Chinese 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 | 53 | ||
Expanded carrier screening: Primary Prevention of Recessive Monogenic Diseases evaluated using 1,909 Chinese genome and exome sequencing data Proceeding/Conference:Royal College of Paediatrics and Child Health (RCPCH) International Conference & the 9th Singapore Paediatric & Perinatal Annual Congress | 2021 | 26 | ||
Functional Evaluation and Genetic Landscape of Children and Young Adults Referred for Assessment of Bronchiectasis Journal:Frontiers in Genetics | 2022 | 4 | ||
Refractory thrombocytopenia and myelofibrosis in a novel KDSR mutation: Case report and literature review Journal:Pediatric Blood & Cancer | 2023 |