Birgitte Rode Diness

• Presentation
• Research outputs
• Most downloaded

Most downloads

1. 108 downloads

   Published

   First reported adult patient with TARP syndrome: A case report

   Research output: Contribution to journal › Journal article › Research › peer-review

2. 63 downloads

   Published

   A mutation update on the LDS-associated genes TGFB2/3 and SMAD2/3

   Research output: Contribution to journal › Journal article › Research › peer-review

3. 11 downloads

   Published

   Early diagnosis enabling precision medicine treatment in a young boy with PIK3R1-related overgrowth

   Research output: Contribution to journal › Journal article › Research › peer-review