Showing results 1 to 3 of 3
| Title | Author(s) | Issue Date | |
|---|---|---|---|
Evaluating HighâConfidence Genes in Conotruncal Cardiac Defects by Gene Burden Analyses Journal:Journal of the American Heart Association Cardiovascular and Cerebrovascular Disease | 21-Feb-2023 | ||
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 | ||
Invasive cerebral phaeohyphomycosis in a Chinese boy with CARD9 deficiency and showing unique radiological features, managed with surgical excision and antifungal treatment Journal:International Journal of Infectious Diseases | 2021 |