Anzahl der Einträge: 4.
2012
Audo, Isabelle ,
Bujakowska, Kinga ,
Orhan, Elise,
Poloschek, Charlotte M.,
Defoort-Dhellemmes, Sabine,
Drumare, Isabelle,
Kohl, Susanne ,
Luu, Tien D.,
Lecompte, Odile ,
Zrenner, Eberhart,
Lancelot, Marie-Elise,
Antonio, Aline,
Germain, Aurore,
Michiels, Christelle,
Audier, Claire,
Letexier, Mélanie,
Saraiva, Jean-Paul,
Leroy, Bart P.,
Munier, Francis L.,
Mohand-Saïd, Saddek,
Lorenz, Birgit,
Friedburg, Christoph,
Preising, Markus,
Kellner, Ulrich,
Renner, Agnes B.,
Moskova-Doumanova, Veselina,
Berger, Wolfgang,
Wissinger, Bernd,
Hamel, Christian P.,
Schorderet, Daniel F.,
De Baere, Elfride ,
Sharon, Dror ,
Banin, Eyal,
Jacobson, Samuel G. ,
Bonneau, Dominique ,
Zanlonghi, Xavier,
Le Meur, Guylene,
Casteels, Ingele,
Koenekoop, Robert,
Long, Vernon W.,
Meire, Francoise,
Prescott, Katrina,
de Ravel, Thomy,
Simmons, Ian,
Nguyen, Hoan,
Dollfus, Hélène,
Poch, Olivier,
Léveillard, Thierry,
Nguyen-Ba-Charvet, Kim ,
Sahel, José-Alain ,
Bhattacharya, Shomi S. und
Zeitz, Christina
(2012)
Whole-Exome Sequencing Identifies Mutations in GPR179 Leading to Autosomal-Recessive Complete Congenital Stationary Night Blindness.
The American Journal of Human Genetics 90 (2), S. 321-330.
Volltext nicht vorhanden.
2009
Audo, Isabelle,
Kohl, Susanne ,
Leroy, Bart P.,
Munier, Francis L.,
Guillonneau, Xavier ,
Mohand-Saïd, Saddek,
Bujakowska, Kinga ,
Nandrot, Emeline F.,
Lorenz, Birgit,
Preising, Markus,
Kellner, Ulrich,
Renner, Agnes B.,
Bernd, Antje,
Antonio, Aline,
Moskova-Doumanova, Veselina,
Lancelot, Marie-Elise,
Poloschek, Charlotte M.,
Drumare, Isabelle,
Defoort-Dhellemmes, Sabine,
Wissinger, Bernd,
Léveillard, Thierry,
Hamel, Christian P.,
Schorderet, Daniel F.,
De Baere, Elfride ,
Berger, Wolfgang,
Jacobson, Samuel G. ,
Zrenner, Eberhart,
Sahel, José-Alain ,
Bhattacharya, Shomi S. und
Zeitz, Christina
(2009)
TRPM1 Is Mutated in Patients with Autosomal-Recessive Complete Congenital Stationary Night Blindness.
The American Journal of Human Genetics 85 (5), S. 720-729.
Volltext nicht vorhanden.
2002
Kohl, Susanne ,
Baumann, Britta,
Rosenberg, Thomas,
Kellner, Ulrich,
Lorenz, Birgit,
Vadalà, Maria,
Jacobson, Samuel G. und
Wissinger, Bernd
(2002)
Mutations in the Cone Photoreceptor G-Protein α-Subunit Gene GNAT2 in Patients with Achromatopsia.
The American Journal of Human Genetics 71 (2), S. 422-425.
Volltext nicht vorhanden.
2001
Wissinger, Bernd,
Gamer, Daphne,
Jägle, Herbert,
Giorda, Roberto ,
Marx, Tim,
Mayer, Simone,
Tippmann, Sabine,
Broghammer, Martina,
Jurklies, Bernhard,
Rosenberg, Thomas,
Jacobson, Samuel G. ,
Sener, E. Cumhur,
Tatlipinar, Sinan,
Hoyng, Carel B.,
Castellan, Claudio,
Bitoun, Pierre ,
Andreasson, Sten,
Rudolph, Günter,
Kellner, Ulrich,
Lorenz, Birgit,
Wolff, Gerhard,
Verellen-Dumoulin, Christine,
Schwartz, Marianne,
Cremers, Frans P.M. ,
Apfelstedt-Sylla, Eckart,
Zrenner, Eberhart,
Salati, Roberto,
Sharpe, Lindsay T. und
Kohl, Susanne
(2001)
CNGA3 Mutations in Hereditary Cone Photoreceptor Disorders.
The American Journal of Human Genetics 69 (4), S. 722-737.
Volltext nicht vorhanden.
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