Showing results 1 to 7 of 7
| Title | Author(s) | Issue Date | Views | |
|---|---|---|---|---|
| 2015 | 128 | |||
| 2022 | 4 | |||
Mutations in SEC24D cause autosomal recessive osteogenesis imperfecta Journal:Clinical Genetics | 2016 | |||
Importance of cascade family screening and precision medicine for patients with familial hyperkalaemia: a case report Journal:Hong Kong Medical Journal | 2022 | 6 | ||
A report of three families with FBN1- related acromelic dysplasias and review of literature for genotype-phenotype correlation in gelophysic dysplasia Journal:European Journal of Medical Genetics | 2018 | |||
A girl with multiple epiphyseal dysplasia due to novel C.955G >T mutation in the cartilage oligomeric matrix protein 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 | 28 | ||
A case of pituitary stalk interruption syndrome caused by mutation in robo1 gene presenting with early onset growth failure 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 | 52 |