Výsledky vyhledávání - Käsmann‐Kellner, Barbara
- Zobrazuji výsledky 1 - 10 z 10
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A Novel Likely Pathogenic Variant in the BLOC1S5 Gene Associated with Hermansky-Pudlak Syndrome Type 11 and an Overview of Human BLOC-1 Deficiencies Autor Boeckelmann, Doris, Wolter, Mira, Käsmann-Kellner, Barbara, Koehler, Udo, Schieber-Nakamura, Lea, Zieger, Barbara
Vydáno 2021Text -
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Monocular visual activation patterns in albinism as revealed by functional magnetic resonance imaging Autor Schmitz, Bernd, Käsmann‐Kellner, Barbara, Schäfer, Torsten, Krick, Christoph M., Grön, Georg, Backens, Martin, Reith, Wolfgang
Vydáno 2004Text -
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Hermansky-Pudlak Syndrome: Identification of Novel Variants in the Genes HPS3, HPS5, and DTNBP1 (HPS-7) Autor Boeckelmann, Doris, Wolter, Mira, Neubauer, Katharina, Sobotta, Felix, Lenz, Antonia, Glonnegger, Hannah, Käsmann-Kellner, Barbara, Mann, Jasmin, Ehl, Stephan, Zieger, Barbara
Vydáno 2022Text -
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Similarities in DSG1 and KRT3 Downregulation through Retinoic Acid Treatment and PAX6 Knockdown Related Expression Profiles: Does PAX6 Affect RA Signaling in Limbal Epithelial Cell... Autor Latta, Lorenz, Knebel, Igor, Bleil, Constanze, Stachon, Tanja, Katiyar, Priya, Zussy, Claire, Fries, Fabian Norbert, Käsmann-Kellner, Barbara, Seitz, Berthold, Szentmáry, Nóra
Vydáno 2021Text -
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Structural Differences Across Multiple Visual Cortical Regions in the Absence of Cone Function in Congenital Achromatopsia Autor Lowndes, Rebecca, Molz, Barbara, Warriner, Lucy, Herbik, Anne, de Best, Pieter B., Raz, Noa, Gouws, Andre, Ahmadi, Khazar, McLean, Rebecca J., Gottlob, Irene, Kohl, Susanne, Choritz, Lars, Maguire, John, Kanowski, Martin, Käsmann-Kellner, Barbara, Wieland, Ilse, Banin, Eyal, Levin, Netta, Hoffmann, Michael B., Morland, Antony B., Baseler, Heidi A.
Vydáno 2021Text -
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Structural changes to primary visual cortex in the congenital absence of cone input in achromatopsia Autor Molz, Barbara, Herbik, Anne, Baseler, Heidi A., de Best, Pieter B., Vernon, Richard W., Raz, Noa, Gouws, Andre D., Ahmadi, Khazar, Lowndes, Rebecca, McLean, Rebecca J., Gottlob, Irene, Kohl, Susanne, Choritz, Lars, Maguire, John, Kanowski, Martin, Käsmann-Kellner, Barbara, Wieland, Ilse, Banin, Eyal, Levin, Netta, Hoffmann, Michael B., Morland, Antony B.
Vydáno 2021Text -
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Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome Autor Epting, Daniel, Senaratne, Lokuliyange D. S., Ott, Elisabeth, Holmgren, Asbjørn, Sumathipala, Dulika, Larsen, Selma M., Wallmeier, Julia, Bracht, Diana, Frikstad, Kari‐Anne M., Crowley, Suzanne, Sikiric, Alma, Barøy, Tuva, Käsmann‐Kellner, Barbara, Decker, Eva, Decker, Christian, Bachmann, Nadine, Patzke, Sebastian, Phelps, Ian G., Katsanis, Nicholas, Giles, Rachel, Schmidts, Miriam, Zucknick, Manuela, Lienkamp, Soeren S., Omran, Heymut, Davis, Erica E., Doherty, Dan, Strømme, Petter, Frengen, Eirik, Bergmann, Carsten, Misceo, Doriana
Vydáno 2020Text