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Clinical manifestations of dual-gene variants involving ABCA4 in retinal dystrophies by Lasse Wolfram, David A. Merle, Laura Kühlewein, Milda Reith, Melanie Kempf, Krunoslav Stingl, Tobias Haack, Pascale Mazzola, Karin Poths, Nicole Weisschuh, Bernd Wissinger, Susanne Kohl, Katarina Stingl
Published 2025-04-01Get 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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