Showing results 1 to 20 of 31
next >
| Title | Author(s) | Issue Date | Views | |
|---|---|---|---|---|
A Compact Asymmetrical Manipulator for Robotic Dentistry Proceeding/Conference:The 9th IEEE International Conference on CYBER Technology in Automation, Control, and Intelligent Systems (IEEE-CYBER 2019) | 2019 | |||
A significant inflation in TGM6 genetic risk casts doubt in its causation in spinocerebellar ataxia type 35 Journal:Parkinsonism & Related Disorders | 2019 | 92 | ||
Actionable pharmacogenetic variants in Hong Kong Chinese exome sequencing data and projected prescription impact in the Hong Kong population (e-poster) 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 | 47 | ||
Actionable secondary findings in Hong Kong Chinese based on 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 | 4 | ||
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 | 66 | ||
Clinical and molecular features of pleuropulmonary blastoma in children in Hong Kong: case reports Journal:Hong Kong Medical Journal | 2022 | |||
Collagen VI and XII related myopathies: clinical variability and novel variants found in Hong Kong patients Proceeding/Conference:Joint Annual Scientific Meeting 2019 of The Hong Kong Paediatric Society, Hong Kong College of Paediatricians, Hong Kong Paediatric Nurses Association, &
Hong Kong College of Paediatric Nursing | 2019 | 58 | ||
COLLAGEN VI-RELATED MYOPATHIES: CLINICAL VARIABILITY, PHENOTYPE-GENOTYPE CORRELATION AND EXPLORATORY TRANSCRIPTOME STUDY Journal:Neuromuscular Disorders | 2023 | |||
| 2022 | 12 | |||
| 2004 | 176 | |||
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 | 58 | ||
CTNNB1 Neurodevelopmental Disorder Journal:GeneReviews | 2022 | 4 | ||
CTNNB1‐related neurodevelopmental disorder in a Chinese population: A case series Journal:American Journal of Medical Genetics Part A | 2021 | |||
Cutaneous oozing of lymphatic fluid after interventional cardiac catheterization in a patient with Noonan syndrome Journal:Catheterization and Cardiovascular Interventions | 2000 | |||
Delineate the signaling pathway of the suppressive effect of glycodelin-F on progesterone-induced acrosome reaction on human spermatozoa Proceeding/Conference:Research Postgraduate Symposium, RPS 2003 | 2003 | |||
Diagnostic outcome of whole exome sequencing in Hong Kong familes with autism spectrum disorder Proceeding/Conference:Joint Annual Scientific Meeting 2019 of The Hong Kong Paediatric Society, Hong Kong College of Paediatricians, Hong Kong Paediatric Nurses Association, &
Hong Kong College of Paediatric Nursing | 2019 | 76 | ||
Diagnostic value of whole‐exome sequencing in Chinese pediatric‐onset neuromuscular patients Journal:Molecular Genetics & Genomic Medicine | 2020 | 56 | ||
Exome sequencing identifies molecular diagnosis in children with drug-resistant epilepsy Journal:Epilepsia Open | 2019 | 111 | ||
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 | 52 | ||
| 2001 |