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"Mobile element insertion" » "Mobile element infection" (Expand Search)
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  1. 1
    Reverse genotyping: unveiling Alu element insertion as a new cause of Kabuki syndrome using DNA methylation signature

    Reverse genotyping: unveiling Alu element insertion as a new cause of Kabuki syndrome using DNA methylation signature by Quentin Sabbagh, Nathalie Ruiz-Pallares, Cassandra Rastin, Jacques Puechberty, Thomas Guignard, Claire Jeandel, Fanny Merklen, Pascal Pujol, Jennifer Kerkhof, Bekim Sadikovic, Mouna Barat-Houari, David Geneviève

    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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