Showing results 4 to 9 of 9
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| Title | Author(s) | Issue Date | |
|---|---|---|---|
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 | ||
| 2006 | |||
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 | ||
Prenatal and postnatal diagnosis of Schuurs‐Hoeijmakers syndrome: Case series and review of the literature Journal:American Journal of Medical Genetics Part A | 2021 | ||
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 | ||
X-linked Dilated Cardiomyopathy with mutation In The 5′ Splice Site Intron 1 Of Dystrophin Gene With Utrophin Upregulation Journal:Journal of Pediatric Neurology | 2018 |