Showing results 1 to 4 of 4
Title | Author(s) | Issue Date | Views | |
---|---|---|---|---|
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 | 50 | ||
2006 | 211 | |||
Identification of novel FBN1 and TGFBR2 mutations in 65 probands with Marfan syndrome or Marfan-like phenotypes Journal:American Journal of Medical Genetics, Part A | 2009 | 80 | ||
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 | 123 |