Resultados de procura - Milda Reith

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  1. 1
    Therapy with voretigene neparvovec. How to measure success?

    Therapy with voretigene neparvovec. How to measure success? por Krunoslav Stingl, Melanie Kempf, Ronja Jung, Friederike Kortüm, Giulia Righetti, Milda Reith, Spyridon Dimopoulos, Saskia Ott, Susanne Kohl, Katarína Štingl

    Publicado 2022
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  2. 2
    Diagnostic genome sequencing improves diagnostic yield: a prospective single-centre study in 1000 patients with inherited eye diseases

    Diagnostic genome sequencing improves diagnostic yield: a prospective single-centre study in 1000 patients with inherited eye diseases por Nicole Weisschuh, Pascale Mazzola, Theresia Zuleger, Karin Schaeferhoff, Laura Kühlewein, Friederike Kortüm, Dennis Witt, Alexandra Liebmann, Ruth Falb, Lisa Pohl, Milda Reith, Lara G. Stühn, Miriam Bertrand, Amelie J. Müller, Nicolas Casadei, Olga Kelemen, Carina Kelbsch, Christoph Kernstock, Paul Richter, Françoise Sadler, German Demidov, Leon Schütz, Jakob Admard, Marc Sturm, Ute Grasshoff, Felix Tonagel, T. Heinrich, Fadi Nasser, Bernd Wissinger, Stephan Ossowski, Susanne Kohl, Olaf Rieß, Katarína Štingl, Tobias B. Haack

    Publicado 2023
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  3. 3
    Variants in CFAP410 cause a range of retinal and skeletal phenotypes

    Variants in CFAP410 cause a range of retinal and skeletal phenotypes por 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

    Publicado 2025
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