Sökning: "Jakob Schuy"

Hittade 1 avhandling innehållade orden Jakob Schuy.

1. 1. Complex genomic rearrangements in rare brain disorders : genetic architecture and molecular consequences

   Författare :Jakob Schuy; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :;

   Sammanfattning : Structural variants (SVs) within the genome, such as deletions, duplications, inversions, and translocations, are common but underappreciated causes of rare diseases. Complex genomic rearrangements involving two or more SVs in cis are incredibly challenging to detect. LÄS MER