Showing results 1 to 4 of 4
Title | Author(s) | Issue Date | |
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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 | ||
NSD1+/- DNA methylation (DNAm) signature: A novel functional diagnostic tool for Sotos syndrome Proceeding/Conference:Annual Meeting of the American Society of Human Genetics, ASHG 2014 | 2014 | ||
Two Chinese Patients with Loeys-Dietz Syndrome: A Connecitve Tissue Disorder with Marfan-like Features and Vasculopathy Journal:Hong Kong Journal of Paediatrics (new series) | 2012 | ||
Under-recognition of 22q11.2 deletion in adult Chinese patients with conotruncal anomalies: Implications in transitional care Journal:European Journal of Medical Genetics | 2014 |