Showing results 6 to 25 of 31
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| Title | Author(s) | Issue Date | |
|---|---|---|---|
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 | ||
COLLAGEN VI-RELATED MYOPATHIES: CLINICAL VARIABILITY, PHENOTYPE-GENOTYPE CORRELATION AND EXPLORATORY TRANSCRIPTOME STUDY Journal:Neuromuscular Disorders | 2023 | ||
| 2022 | |||
| 2004 | |||
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 | ||
CTNNB1 Neurodevelopmental Disorder Journal:GeneReviews | 2022 | ||
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 | ||
Diagnostic value of whole‐exome sequencing in Chinese pediatric‐onset neuromuscular patients Journal:Molecular Genetics & Genomic Medicine | 2020 | ||
Exome sequencing identifies molecular diagnosis in children with drug-resistant epilepsy Journal:Epilepsia Open | 2019 | ||
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 | ||
| 2001 | |||
Genetic diagnosis of drug-resistant epilepsy by whole exome sequencing and chromosomal array in Hong Kong Proceeding/Conference:Annual Scientific Meeting of the Hong Kong College of Paediatricians cum Hong Kong-Guangdong-Shanghai-Chongqing Paediatric Exchange Meeting, 2016 | 2016 | ||
Genetic diagnosis of early onset epilepsy by whole exome sequencing and chromosomal array in Hong Kong Proceeding/Conference:Asian Society for Pediatric Research & Faculty of Medicine Ramathibodi Hospital Joint Meeting, ASPR 2016 | 2016 | ||
Glycodelin-S in human seminal plasma reduces cholesterol efflux and inhibits capacitation of spermatozoa Journal:Journal of Biological Chemistry | 2005 | ||
Identification of glycodelin-A (Gd-A) binding peptides using random peptide display Proceeding/Conference:Annual Meeting of the Society for the Study of Reproduction, SSR 2004 | 2004 | ||
| 2017 |