Search Results - "Dahler, Ellen C."

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    QR‐421a RNA therapy in retinitis pigmentosa due to mutations in USH2A: Stellar trial Phase[AP1] 1b/2 interim results by Audo, Isabelle, Birch, David G., Thiran Jayasundera, K., Meunier, Isabelle, Huckfeldt, Rachel M., Koenekoop, Robert K., Yang, Paul, Cock, Edouard P. M., Dahler, Ellen C., Taylor, John, Shams, Naveed, Girach, Aniz

    Published in Acta ophthalmologica (Oxford, England) (01-01-2022)
    “…Purpose To report Phase 1b/2 interim results of QR‐421a RNA therapy promoting USH2A exon 13 skipping. USH2A exon 13 mutations lead to non‐syndromic Retinitis…”
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    Journal Article
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    ATM-Heterozygous Germline Mutations Contribute to Breast Cancer–Susceptibility by Broeks, Annegien, Urbanus, Jos H.M., Floore, Arno N., Dahler, Ellen C., Klijn, Jan G.M., Rutgers, Emiel J. Th, Devilee, Peter, Russell, Nicola S., van Leeuwen, Flora E., van't Veer, Laura J.

    Published in American journal of human genetics (01-02-2000)
    “…Approximately 0.5%–1% of the general population has been estimated to be heterozygous for a germline mutation in the ATM gene. Mutations in the ATM gene are…”
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    Journal Article