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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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Variants in CFAP410 cause a range of retinal and skeletal phenotypes by Ryan E. Schmidt, Amy E. Pohodich, David Birch, Kaylie Jones, Byron L. Lam, Emily H. Jung, Nieraj Jain, Michalis Georgiou, Omar A. Mahroo, Andrew R. Webster, Michel Michaelides, Benjamin Bakall, Alessandro Iannaccone, Ajoy Vincent, Deepika C. Parameswarappa, Elise Heon, Hendrik P. N. Scholl, Lucas Janeschitz-Kriegl, Elias I. Traboulsi, Wadih Zein, Brian P. Brooks, Catherine Cukras, Robert Hufnagel, Tomas S. Aleman, Mohamed M. Sylla, Stephen H. Tsang, Michelle Alabek, Jose Sahel, Michael B. Gorin, Maria M. van Genderen, Katarina Stingl, Milda Reith, Susanne Kohl, Rebeca Azevedo Souza Amaral, Juliana Maria Ferraz Sallum, Andrea L. Vincent, Sarah Hull, Jacque L. Duncan, James V. M. Hanson, Matthias Tedeus, Jordi Maggi, Urs Graf, Samuel Koller, Wolfgang Berger, Christina Gerth-Kahlert, Molly Marra, Lesley A. Everett, Paul Yang, Mark E. Pennesi
Published 2025-04-01Get full text
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