Resultats de la cerca - Françoise Sadler

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  1. 1
    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 per 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

    Publicat 2023
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  2. 2
    ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants

    ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variant... per Miriam Bauwens, Alejandro Garanto, Riccardo Sangermano, Sarah Naessens, Nicole Weisschuh, Julie De Zaeytijd, Mubeen Khan, Françoise Sadler, Irina Balikova, Caroline Van Cauwenbergh, Toon Rosseel, Jim Bauwens, Kim De Leeneer, Sarah De Jaegere, Thalia Van Laethem, Meindert De Vries, Keren Carss, Gavin Arno, Ana Fakin, Andrew R. Webster, Thomy J.L. de Ravel de l’Argentière, Yves Sznajer, Marnik Vuylsteke, Susanne Kohl, Bernd Wissinger, Timothy J. Cherry, Rob W.J. Collin, Frans P.M. Cremers, Bart P. Leroy, Elfride De Baere

    Publicat 2019
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