Showing 1 - 2 results of 2 for search 'Joseph Porrmann', query time: 0.01s Refine Results
  1. 1
    Validation of a hypomorphic variant in CDK13 as the cause of CHDFIDD with autosomal recessive inheritance through determination of an episignature

    Validation of a hypomorphic variant in CDK13 as the cause of CHDFIDD with autosomal recessive inheritance through determination of an episignature by Jan Fischer, Mariëlle Alders, Marcel M. A. M. Mannens, David Genevieve, Karl Hackmann, Evelin Schröck, Bekim Sadikovic, Joseph Porrmann

    Published 2025-01-01
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  2. 2
    Long-read genome and RNA sequencing resolve a pathogenic intronic germline LINE-1 insertion in APC

    Long-read genome and RNA sequencing resolve a pathogenic intronic germline LINE-1 insertion in APC by Alexandra A. Baumann, Lisanne I. Knol, Marie Arlt, Tim Hutschenreiter, Anja Richter, Thomas J. Widmann, Marcus Franke, Karl Hackmann, Sylke Winkler, Daniela Richter, Isabel Spier, Stefan Aretz, Daniela Aust, Joseph Porrmann, Doreen William, Evelin Schröck, Hanno Glimm, Arne Jahn

    Published 2025-04-01
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