Showing results 1 to 14 of 14
| Title | Author(s) | Issue Date | Views | |
|---|---|---|---|---|
A novel patient with an attenuated Costello syndrome phenotype due to an HRAS mutation affecting codon 146-Literature review and update Journal:American Journal of Medical Genetics Part A | 2017 | 55 | ||
CFTR: p.I1023R is a rare but recurrent disease-causing mutation found in Chinese patients with Cystic Fibrosis Proceeding/Conference:Annual Meeting of the American Society of Human Genetics, ASHG 2014 | 2014 | 106 | ||
Clinical application of whole exome sequencing for paediatric undiagnosed diseases in Hong Kong: experience from first sixty cases Proceeding/Conference:Annual Scientific Meeting of the Hong Kong College of Paediatricians, HKCPaed 2015 | 2015 | 62 | ||
Clinical Quiz - What is the Diagnosis? Journal:Hong Kong Journal of Paediatrics (new series) | 2014 | 19 | ||
Clinical Quiz - What is the Diagnosis? Journal:Hong Kong Journal of Paediatrics (New series) | 2015 | 29 | ||
Clinical Quiz - What is the Diagnosis? Journal:Hong Kong Journal of Paediatrics (New series) | 2014 | 26 | ||
Copy number variation in Hong Kong patients with autism spectrum disorder Proceeding/Conference:Hong Kong Journal of Paediatrics (New series) | 2016 | 68 | ||
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 | 47 | ||
Homozygous missense mutation in ABR causes cerebellar hypoplasia with early lethality: a new condition identified by exome sequencing? Proceeding/Conference:American Journal of Medical Genetics Part A | 2015 | 56 | ||
Integration of chromosomal microarray into paediatric clinical care in Hong Kong Proceeding/Conference:Annual Scientific Meeting of the Hong Kong College of Paediatricians, HKCPaed 2013 | 2013 | 44 | ||
Massive parallel sequencing for the genetic diagnosis of rasopathies: a study of 58 Chinese patients in Hong Kong Proceeding/Conference:Annual Scientific Meeting of the Canadian College of Medical Geneticists, CCMG 2013 | 2013 | 26 | ||
Use of clinical chromosomal microarray in Hong Kong Chinese patients with autism spectrum disorder - implication of a copy number variation involving DPP10 Proceeding/Conference:Asian Society for Pediatric Research & Faculty of Medicine Ramathibodi Hospital Joint Meeting, ASPR 2016 | 2016 | 61 | ||
What is the Diagnosis ? - 1P36 deletion Journal:Hong Kong Journal of Paediatrics (new series) | 2015 | 28 | ||
What is the Diagnosis? Journal:Hong Kong Journal of Paediatrics (New series) | 2016 | 17 |