Showing results 1 to 10 of 10
| Title | Author(s) | Issue Date | |
|---|---|---|---|
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 | ||
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 | ||
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 | ||
Editorial: Genetics and mechanism of ciliopathies Journal:Frontiers in Genetics | 2022 | ||
Exome sequencing identifies molecular diagnosis in children with drug-resistant epilepsy Journal:Epilepsia Open | 2019 | ||
| 2017 | |||
| 2018 | |||
NLRP3 Inflammasome Contributes to Host Defense Against Talaromyces marneffei Infection Journal:Frontiers in Immunology | 2021 | ||
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 | ||
| 2018 |