Deep Blue: Browsing by Author "Kellner, Ulrich"

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Deepâ intronic variants in CNGB3 cause achromatopsia by pseudoexon activation

Weisschuh, Nicole; Sturm, Marc; Baumann, Britta; Audo, Isabelle; Ayuso, Carmen; Bocquet, Beatrice; Branham, Kari; Brooks, Brian P.; Catalá‐mora, Jaume; Giorda, Roberto; Heckenlively, John R.; Hufnagel, Robert B.; Jacobson, Samuel G.; Kellner, Ulrich; Kitsiou‐tzeli, Sofia; Matet, Alexandre; Martorell Sampol, Loreto; Meunier, Isabelle; Rudolph, Günther; Sharon, Dror; Stingl, Katarina; Streubel, Berthold; Varsányi, Balázs; Wissinger, Bernd; Kohl, Susanne (Wiley Periodicals, Inc., 2020-01)

(672.7KB) (1.7MB) (509.2KB)
Large deletions of the KCNV2 gene are common in patients with cone dystrophy with supernormal rod response

Wissinger, Bernd; Schaich, Simone; Baumann, Britta; Bonin, Michael; Jägle, Herbert; Friedburg, Christoph; Varsányi, Balázs; Hoyng, Carel B.; Dollfus, Hélène; Heckenlively, John R.; Rosenberg, Thomas; Rudolph, Günter; Kellner, Ulrich; Salati, Roberto; Plomp, Astrid; De Baere, Elfride; Andrassi‐darida, Monika; Sauer, Alexandra; Wolf, Christiane; Zobor, Ditta; Bernd, Antje; Leroy, Bart P.; Enyedi, Péter; Cremers, Frans P.M.; Lorenz, Birgit; Zrenner, Eberhart; Kohl, Susanne (Wiley Subscription Services, Inc., A Wiley Company, 2011-12)

(436.7KB) (558.6KB)
Mutations in the GUCA1A gene involved in hereditary cone dystrophies impair calcium-mediated regulation of guanylate cyclase

Kitiratschky, Veronique B. D.; Behnen, Petra; Kellner, Ulrich; Heckenlively, John R.; Zrenner, Eberhart; Jägle, Herbert; Kohl, Susanne; Wissinger, Bernd; Koch, Karl-Wilhelm (Wiley Subscription Services, Inc., A Wiley Company, 2009-08)

(237KB)