Results
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3721.
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3722.
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3723.
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3724.
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Genetic etiology and clinical consequences of complete and incomplete achromatopsia. [electronic resource] by
- Thiadens, Alberta A H J
- Slingerland, Niki W R
- Roosing, Susanne
- van Schooneveld, Mary J
- van Lith-Verhoeven, Janneke J C
- van Moll-Ramirez, Norka
- van den Born, L Ingeborgh
- Hoyng, Carel B
- Cremers, Frans P M
- Klaver, Caroline C W
Producer: 20091016
In:
Ophthalmology vol. 116
Availability: No items available.
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3725.
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3726.
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3727.
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Deep-intronic variants in CNGB3 cause achromatopsia by pseudoexon activation. [electronic resource] by
- 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
Producer: 20210519
In:
Human mutation vol. 41
Availability: No items available.
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3728.
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3729.
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3730.
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3731.
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3732.
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Development of Methodology and Study Protocol: Safety and Efficacy of a Single Subretinal Injection of rAAV.hCNGA3 in Patients with CNGA3-Linked Achromatopsia Investigated in an Exploratory Dose-Escalation Trial. [electronic resource] by
- Kahle, Nadine A
- Peters, Tobias
- Zobor, Ditta
- Kuehlewein, Laura
- Kohl, Susanne
- Zhour, Ahmad
- Werner, Annette
- Seitz, Immanuel P
- Sothilingam, Vithiyanjali
- Michalakis, Stylianos
- Biel, Martin
- Ueffing, Marius
- Zrenner, Eberhart
- Bartz-Schmidt, Karl U
- Fischer, M Dominik
- Wilhelm, Barbara J C
Producer: 20190225
In:
Human gene therapy. Clinical development vol. 29
Availability: No items available.
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3733.
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Safety and Vision Outcomes of Subretinal Gene Therapy Targeting Cone Photoreceptors in Achromatopsia: A Nonrandomized Controlled Trial. [electronic resource] by
- Fischer, M Dominik
- Michalakis, Stylianos
- Wilhelm, Barbara
- Zobor, Ditta
- Muehlfriedel, Regine
- Kohl, Susanne
- Weisschuh, Nicole
- Ochakovski, G Alex
- Klein, Reinhild
- Schoen, Christian
- Sothilingam, Vithiyanjali
- Garcia-Garrido, Marina
- Kuehlewein, Laura
- Kahle, Nadine
- Werner, Annette
- Dauletbekov, Daniyar
- Paquet-Durand, François
- Tsang, Stephen
- Martus, Peter
- Peters, Tobias
- Seeliger, Mathias
- Bartz-Schmidt, Karl Ulrich
- Ueffing, Marius
- Zrenner, Eberhart
- Biel, Martin
- Wissinger, Bernd
Producer: 20210119
In:
JAMA ophthalmology vol. 138
Availability: No items available.
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3734.
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3735.
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3736.
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3737.
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Decreased catalytic activity and altered activation properties of PDE6C mutants associated with autosomal recessive achromatopsia. [electronic resource] by
- Grau, Tanja
- Artemyev, Nikolai O
- Rosenberg, Thomas
- Dollfus, Hélène
- Haugen, Olav H
- Cumhur Sener, E
- Jurklies, Bernhard
- Andreasson, Sten
- Kernstock, Christoph
- Larsen, Michael
- Zrenner, Eberhart
- Wissinger, Bernd
- Kohl, Susanne
Producer: 20110614
In:
Human molecular genetics vol. 20
Availability: No items available.
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3738.
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3739.
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3740.
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