Risultati della ricerca - Lucas Janeschitz‐Kriegl

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  1. 1
    Endpoints for clinical trials in ophthalmology

    Endpoints for clinical trials in ophthalmology di Leopold Schmetterer, Hendrik P. N. Scholl, Gerhard Garhöfer, Lucas Janeschitz‐Kriegl, Federico Corvi, Srinivas R. Sadda, Felipe A. Medeiros

    Pubblicazione 2023
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  2. 2
    Looking outside the box with a pathology aware AI approach for analyzing OCT retinal images in Stargardt disease

    Looking outside the box with a pathology aware AI approach for analyzing OCT retinal images in Stargardt disease di Parisa Khateri, Tiana Koottungal, Damon Wing Kee Wong, Rupert W. Strauß, Lucas Janeschitz‐Kriegl, Maximilian Pfau, Leopold Schmetterer, Hendrik P. N. Scholl

    Pubblicazione 2025
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  3. 3
    Autosomal dominant RP1 c.2613dupA (p.Arg872Thrfs*2) variant retinitis pigmentosa shows linear loss of the ellipsoid zone over time with highly variable phenotype.

    Autosomal dominant RP1 c.2613dupA (p.Arg872Thrfs*2) variant retinitis pigmentosa shows linear loss of the ellipsoid zone over time with highly variable phenotype. di Nastasia Foa, Maximilian Pfau, Georg Ansari, Giuseppe Cancian, Gabriela Grimaldi, Samuel Koller, Wolfgang Berger, Pascal Escher, Lucas Janeschitz‐Kriegl, Carlo Rivolta, Hendrik P. N. Scholl, Moreno Menghini

    Pubblicazione 2025
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  4. 4
    Multidisciplinary team directed analysis of whole genome sequencing reveals pathogenic non-coding variants in molecularly undiagnosed inherited retinal dystrophies

    Multidisciplinary team directed analysis of whole genome sequencing reveals pathogenic non-coding variants in molecularly undiagnosed inherited retinal dystrophies di Malena Daich Varela, James Bellingham, Fabiana Louise Motta, Neringa Jurkutė, Jamie M. Ellingford, Mathieu Quinodoz, Kathryn Oprych, Michael Niblock, Lucas Janeschitz‐Kriegl, Karolina Kamińska, Francesca Cancellieri, Hendrik P. N. Scholl, Eva Lenassi, Elena Schiff, Hannah Knight, Graeme Black, Carlo Rivolta, Michael E. Cheetham, Michel Michaelides, Omar A. Mahroo, Anthony T. Moore, Andrew R. Webster, Gavin Arno

    Pubblicazione 2022
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  5. 5
    High-efficiency base editing in the retina in primates and human tissues

    High-efficiency base editing in the retina in primates and human tissues di Alissa Muller, Jack M. Sullivan, Wibke Schwarzer, Mantian Wang, Cindy Park‐Windhol, Pascal W. Hasler, Lucas Janeschitz‐Kriegl, Mert Duman, Beryll Klingler, Jane Matsell, Simon Manuel Hostettler, Patricia Galliker, Yanyan Hou, Pierre Balmer, Tamás Virág, Luis Barrera, Lauren Young, Quan Xu, Dániel Péter Magda, Ferenc Kilin, Arogya Khadka, Pierre‐Henri Moreau, Lyne Fellmann, Thierry Azoulay, Mathieu Quinodoz, Duygu Karademir, Jan Leppert, Alex Fratzl, Georg Kosche, Ruchi Sharma, Jair Montford, Marco Cattaneo, Mikaël Croyal, Thérèse Cronin, Simone Picelli, Alice Grison, Cameron S. Cowan, Ákos Kusnyerik, Philipp Anders, Magdalena Renner, Zoltán Zsolt Nagy, Arnold Szabó, Kapil Bharti, Carlo Rivolta, Hendrik P. N. Scholl, David I. Bryson, Giuseppe Ciaramella, Botond Roska, Bence György

    Pubblicazione 2025
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  6. 6
    Variants in CFAP410 cause a range of retinal and skeletal phenotypes

    Variants in CFAP410 cause a range of retinal and skeletal phenotypes di Reinhold E. Schmidt, Amy E. Pohodich, David G. Birch, Kaylie Webb-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 Héon, Hendrik P. N. Scholl, Lucas Janeschitz‐Kriegl, Elias I. Traboulsi, Wadih M. Zein, Brian P. Brooks, Catherine A. Cukras, Robert B. Hufnagel, Tomas S. Aleman, Mohamed M. Sylla, Stephen H. Tsang, Michelle Alabek, José‐Alain Sahel, Michael B. Gorin, Maria M. van Genderen, Katarína Štingl, 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, U. U. Graf, Samuel Koller, Wolfgang Berger, Christina Gerth‐Kahlert, Molly Marra, Lesley Everett, Paul Yang, Mark E. Pennesi

    Pubblicazione 2025
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