Caroline Maria Rossing

• Presentation
• Research outputs
• Most downloaded

Most downloads

1. 24 downloads

   Published

   A comparison of tools for copy-number variation detection in germline whole exome and whole genome sequencing data

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

2. 20 downloads

   Published

   Collagen remodelling and plasma ascorbic acid levels in patients suspected of inherited bleeding disorders harbouring germline variants in collagen‐related genes

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

3. 19 downloads

   Published

   A catalog of curated breast cancer genes

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

4. 17 downloads

   Published

   9p21.3 Microdeletion involving CDKN2A/2B in a young patient with multiple primary cancers and review of the literature

   Research output: Contribution to journal › Review › Research › peer-review

5. 17 downloads

   Published

   Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points-based ACMG/AMP approach

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