Showing results 1 to 5 of 5
| Title | Author(s) | Issue Date | |
|---|---|---|---|
22q11.2 deletion syndrome in adult Chinese Patients with Conotruncal Anomalies: dysmorphisms, clinical features and underdiagnosis Proceeding/Conference:Hong Kong Journal of Paediatrics (New series) | 2013 | ||
Chinese patients with rasopathies: Detection of 29 known and novel variants using next-generation sequencing (NGS) Proceeding/Conference:36th Annual David W. Smith Workshop | 2015 | ||
Identifying genetic mutations in patients with Rasopathies using a Next Generation Sequencing Diagnostic Pipeline in Hong Kong Proceeding/Conference:Hong Kong Journal of Paediatrics (New series) | 2014 | ||
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 | ||
Two cases of spondylothoracic dysostosis (Jarcho Levin syndrome) in Chinese population Proceeding/Conference:Asia Pacific Conference on Human Genetics, 2010 | 2011 |