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Dominant cone-rod dystrophy: a mouse model generated by gene targeting of the GCAP1/Guca1a gene. by Prateek K Buch, Marija Mihelec, Phillippa Cottrill, Susan E Wilkie, Rachael A Pearson, Yanai Duran, Emma L West, Michel Michaelides, Robin R Ali, David M Hunt
Published 2011-03-01Get full text
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2
Variants in NR6A1 cause a novel oculo vertebral renal syndrome by Uma M. Neelathi, Ehsan Ullah, Aman George, Mara I. Maftei, Elangovan Boobalan, Daniel Sanchez-Mendoza, Chloe Adams, David McGaughey, Yuri V. Sergeev, Ranya AI Rawi, Amelia Naik, Chelsea Bender, Irene H. Maumenee, Michel Michaelides, Tun Giap Tan, Siying Lin, Rafael Villasmil, Delphine Blain, Robert B. Hufnagel, Gavin Arno, Rodrigo M. Young, Bin Guan, Brian P. Brooks
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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Visual Acuity, Full-field Stimulus Thresholds, and Electroretinography for 4 Years in The Rate of Progression of USH2A-related Retinal Degeneration (RUSH2A) Study by David G. Birch, PhD, Peiyao Cheng, PhD, Maureen G. Maguire, PhD, Jacque L. Duncan, MD, Allison R. Ayala, MS, Janet K. Cheetham, PharmD, Nicole R. Doucet, MPH, Todd A. Durham, PhD, Abigail T. Fahim, MD, PhD, Frederick L. Ferris, III, MD, Rachel M. Huckfeldt, MD, PhD, Michele Melia, ScM, Michel Michaelides, MD (Res), Mark E. Pennesi, MD, PhD, José-Alain Sahel, MD, Katarina Stingl, MD, Ajoy Vincent, MBBS, MS, Christina Y. Weng, MD, MBA
Published 2025-03-01Get 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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