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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 2025-04-01Get full text
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Bile Acid Metabolism Changes in Patients with a CRB1-Associated Inherited Retinal Degeneration by Lude Moekotte, MD, PhD, Joke H. de Boer, MD, PhD, Sanne Hiddingh, MSc, Bram Gerritsen, PhD, Jutta Lintelmann, PhD, Alexander Cecil, PhD, L. Ingeborgh van den Born, MD, PhD, Xuan-Thanh-An Nguyen, MD, PhD, Camiel J.F. Boon, MD, PhD, Maria M. van Genderen, MD, PhD, Jonas J.W. Kuiper, PhD
Published 2025-07-01Get full text
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Safety and Proof-of-Concept Study of Oral QLT091001 in Retinitis Pigmentosa Due to Inherited Deficiencies of Retinal Pigment Epithelial 65 Protein (RPE65) or Lecithin:Retinol Acylt... by Hendrik P N Scholl, Anthony T Moore, Robert K Koenekoop, Yuquan Wen, Gerald A Fishman, L Ingeborgh van den Born, Ava Bittner, Kristen Bowles, Emily C Fletcher, Frederick T Collison, Gislin Dagnelie, Simona Degli Eposti, Michel Michaelides, David A Saperstein, Ronald A Schuchard, Claire Barnes, Wadih Zein, Ditta Zobor, David G Birch, Janine D Mendola, Eberhart Zrenner, RET IRD 01 Study Group
Published 2015-01-01Get full text
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