Showing 1 - 2 results of 2 for search 'Susanne Roosing', query time: 0.01s Refine Results
  1. 1
    Long-read technologies identify a hidden LINE-1/ERV1 insertion in IQCB1 as causative variant for Senior-Løken syndrome

    Long-read technologies identify a hidden LINE-1/ERV1 insertion in IQCB1 as causative variant for Senior-Løken syndrome by Suzanne E. de Bruijn, L. Ingeborgh van den Born, Ronny Derks, Lonneke Haer-Wigman, Luke O’Gorman, Frans P. M. Cremers, Ronald van Beek, Alexander Hoischen, Susanne Roosing, Kornelia Neveling

    Published 2025-04-01
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  2. 2
    Targeted long-read cDNA sequencing reveals novel splice-altering pathogenic variants causing retinal dystrophies

    Targeted long-read cDNA sequencing reveals novel splice-altering pathogenic variants causing retinal dystrophies by Dalila Capasso, Roberta Zeuli, Gavin Arno, Michael Kwint, Raoul Timmermans, Karla A. Ruiz-Ceja, Marianthi Karali, Francesca Simonelli, Sabrina Signorini, Enza Maria Valente, Frans P.M. Cremers, Sandro Banfi, Susanne Roosing, Daan M. Panneman, Suzanne E. de Bruijn

    Published 2025-07-01
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