Showing results 17 to 20 of 20
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Title | Author(s) | Issue Date | |
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Thanatophoric dysplasia variant, San Diego type in a Chinese fetus, caused by C746G missense mutation in FGFR3 gene Journal:Hong Kong Journal of Paediatrics | 2006 | ||
Two cases of spondylothoracic dysostosis (Jarcho Levin syndrome) in Chinese population Proceeding/Conference:Asia Pacific Conference on Human Genetics, 2010 | 2011 | ||
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 |