Showing results 3 to 10 of 10
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| Title | Author(s) | Issue Date | |
|---|---|---|---|
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 |