检索结果 - Charlotte Reiff

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  1. 1
    Bestrophin 1 is indispensable for volume regulation in human retinal pigment epithelium cells

    Bestrophin 1 is indispensable for volume regulation in human retinal pigment epithelium cells 由 Andrea Milenkovic, Caroline Brandl, Vladimir M. Milenkovic, Thomas Jendryke, Lalida Sirianant, Potchanart Wanitchakool, Stephanie Zimmermann, Charlotte Reiff, Franziska Horling, Heinrich Schrewe, Rainer Schreiber, Karl Kunzelmann, Christian H. Wetzel, Bernhard H. F. Weber

    出版 2015
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    Artigo
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  2. 2
    Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing

    Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing 由 Nicole Weisschuh, Anja K. Mayer, Tim M. Strom, Susanne Kohl, Nicola Glöckle, Max Schubach, Sten Andréasson, Antje Bernd, David G. Birch, Christian P. Hamel, John R. Heckenlively, Samuel G. Jacobson, C. Kamme, Ulrich Kellner, Erdmute Kunstmann, Pietro Maffei, Charlotte Reiff, Klaus Rohrschneider, Thomas Rosenberg, Günther Rudolph, Rita Vámos, Balázs Varsányi, Richard G. Weleber, Bernd Wissinger

    出版 2016
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    Artigo
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  3. 3
    Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA–protein interaction

    Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA–protein interaction 由 Kathleen A. Williamson, Hildegard Nikki Hall, Liusaidh J. Owen, Benjamin Livesey, Isabel M. Hanson, Gill Adams, Simon Bodek, Patrick Calvas, Bruce Castle, Michael W. Clarke, Alexander T. Deng, Patrick Edery, Richard Fisher, Gabriele Gillessen‐Kaesbach, Elise Héon, Jane A. Hurst, Dragana Josifova, Birgit Lorenz, Shane McKee, Françoise Meire, Anthony T. Moore, Michael Parker, Charlotte Reiff, Jay Self, Edward S. Tobias, Joanne Verheij, Marjolaine Willems, Denise Williams, Veronica van Heyningen, Joseph A. Marsh, David Fitzpatrick

    出版 2019
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  4. 4
    Biallelic Mutations in GNB3 Cause a Unique Form of Autosomal-Recessive Congenital Stationary Night Blindness

    Biallelic Mutations in GNB3 Cause a Unique Form of Autosomal-Recessive Congenital Stationary Night Blindness 由 Ajoy Vincent, Isabelle Audo, Erika Tavares, Jason T. Maynes, Anupreet Tumber, Tom Wright, Shuning Li, Christelle Michiels, Christel Condroyer, H. Robson MacDonald, R Verdet, José‐Alain Sahel, Christian Hamel, Christina Zeitz, Elise Héon, Eyal Banin, Béatrice Bocquet, Elfride De Baere, Ingele Casteels, Sabine Defoort‐Dhellemmes, Isabelle Drumare, Christoph Friedburg, Irène Gottlob, Samuel G. Jacobson, Ulrich Kellner, Robert K. Koenekoop, Susanne Kohl, Bart P. Leroy, Birgit Lorenz, Rebecca J. McLean, Françoise Meire, Isabelle Meunier, Francis L. Munier, Thomy de Ravel, Charlotte Reiff, Saddek Mohand‐Saïd, Dror Sharon, Daniel F. Schorderet, Sharon Schwartz, Xavier Zanlonghi

    出版 2016
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  5. 5
    Comprehensive variant spectrum of the <i>CNGA3</i> gene in patients affected by achromatopsia

    Comprehensive variant spectrum of the <i>CNGA3</i> gene in patients affected by achromatopsia 由 Maria Solaki, Britta Baumann, Peggy Reuter, Sten Andréasson, Isabelle Audo, Carmen Ayuso, Ghassan Balousha, Francesco Benedicenti, David G. Birch, Pierre Bitoun, Delphine Blain, Béatrice Bocquet, Kari Branham, Jaume Catalá‐Mora, Elfride De Baere, Hélène Dollfus, Mohammed Falana, Roberto Giorda, Irina Golovleva, Irène Gottlob, John R. Heckenlively, Samuel G. Jacobson, Kaylie Webb-Jones, Herbert Jägle, Andreas Janecke, Ulrich Kellner, Petra Lišková, Birgit Lorenz, Loreto Martorell, André Messias, Isabelle Meunier, Fernanda Belga Ottoni Porto, Eleni Papageorgiou, Astrid S. Plomp, Thomy de Ravel, Charlotte Reiff, Agnes B. Renner, Thomas Rosenberg, Günther Rudolph, R. Salati, Emin Cumhur Şener, Paul A. Sieving, Franco Stanzial, Elias I. Traboulsi, Stephen H. Tsang, Balázs Varsányi, Richard G. Weleber, Ditta Zobor, Katarína Štingl, Bernd Wissinger, Susanne Kohl

    出版 2022
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    Revisão
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  6. 6
    Assessment of Retinopathy of Prematurity Regression and Reactivation Using an Artificial Intelligence–Based Vascular Severity Score

    Assessment of Retinopathy of Prematurity Regression and Reactivation Using an Artificial Intelligence–Based Vascular Severity Score 由 Sonja Eilts, Johanna M. Pfeil, Broder Poschkamp, Tim U. Krohne, Nicole Eter, Teresa Barth, Rainer Guthoff, Wolf A. Lagrèze, Milena Grundel, Marie‐Christine Bründer, Martin Busch, Jayashree Kalpathy‐Cramer, Michael F. Chiang, R.V. Paul Chan, Aaron S. Coyner, Susan Ostmo, Nicole Eter, Andreas Stahl, Milena Grundel, Johanna M. Pfeil, Andreas Stahl, Marie‐Christine Bründer, Anima Bühler, Moritz Claudius Daniel, Susanne Felzmann, Nicolai Gross, Stefanie Horn, Wolf A. Lagrèze, Fanni Molnár, Claudia Müller, S. Reichl, Charlotte Reiff, Olga Richter, Milena Stech, Roland Hentschel, Dimitria Stavropolou, Juliane Tautz, Kerstin Bartsch, Jennifer Braunstein, Ralf Brinken, Christian Brinkmann, J Czauderna, Wiebke Dralle, Martin Gliem, Arno Goebel, Philipp K. R. Heymer, Martina Hofmann, Frank G. Holz, Tim U. Krohne, David Kupitz, Philipp L. Müller, Michael Petrak, Eva Janine Schmitz, Steffen Schmitz‐Valckenberg, Moritz Schröder, Julia S. Steinberg, Julia Supé, Evelyn Kant, Diana Kunze, Andreas Müller, Adeline Adorf, Anne F. Alex, Florian Alten, Christoph R. Clemens, Nicole Eter, Silvia Falkenau, Caroline Friedhoff, Desiree Sandra Loos, Nataša Mihailović, Julia Termühlen, Constantin E. Uhlig, I Hörnig-Franz, Esther Rieger‐Fackeldey, Maria Tekaat, Claudius Werner, Mathias Altmann, Teresa Barth, Christiane Blecha, Sabine Brandl-Rühle, Horst Helbig, Karsten Hufendiek, Herbert Jägle, Julia Konrad, Eva Kopetzky, Fabian Lehmann, Isabel Oberacher-Velten, Annette Keller-Wackerbauer, Jochen Kittel, Hugo Segerer, Phillip Ackermann, Jemina Benga, Rainer Guthoff, Tanja Guthoff, Elena Kleinert, Ertan Mayatepek, Stefan Schrader, Magdalena Völker, Thomas Höhn, Klaus Lohmeier, Hemmen Sabir

    出版 2023
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    Artigo
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