المؤلفون: Solaki, Maria, Baumann, Britta, Reuter, Peggy, Andreasson, Sten, Audo, Isabelle, Ayuso, Carmen, Balousha, Ghassan, Benedicenti, Francesco, Birch, David, Bitoun, Pierre, Blain, Delphine, Bocquet, Beatrice, Branham, Kari, Català-Mora, Jaume, De Baere, Elfride, Dollfus, Helene, Falana, Mohammed, Giorda, Roberto, Golovleva, Irina, Gottlob, Irene, Heckenlively, John R., Jacobson, Samuel G., Jones, Kaylie, Jägle, Herbert, Janecke, Andreas R., Kellner, Ulrich, Liskova, Petra, Lorenz, Birgit, Martorell-Sampol, Loreto, Messias, André, Meunier, Isabelle, Belga Ottoni Porto, Fernanda, Papageorgiou, Eleni, Plomp, Astrid S., de Ravel, Thomy J. L., Reiff, Charlotte M., Renner, Agnes B., Rosenberg, Thomas, Rudolph, Günther, Salati, Roberto, Sener, E. Cumhur, Sieving, Paul A., Stanzial, Franco, Traboulsi, Elias I., Tsang, Stephen H., Varsanyi, Balázs, Weleber, Richard G., Zobor, Ditta, Stingl, Katarina, Wissinger, Bernd, Kohl, Susanne

المصدر: Human Mutation. 43(7):832-858

مصطلحات موضوعية: achromatopsia, CNGA3, cyclic nucleotide-gated ion channel, in silico analysis, variant classification, variant spectrum, medicinsk genetik, Medical Genetics

وصف الملف: electronic

الوصول الحر: https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-194641Test
https://doi.org/10.1002/humu.24371Test
https://umu.diva-portal.org/smash/get/diva2:1658113/FULLTEXT02.pdfTest

المؤلفون: Lee, Eun-Jin, Chiang, Wei-Chieh Jerry, Kroeger, Heike, Bi, Chloe Xiaoke, Chao, Daniel L, Skowronska-Krawczyk, Dorota, Mastey, Rebecca R, Tsang, Stephen H, Chea, Leon, Kim, Kyle, Lambert, Scott R, Grandjean, Julia MD, Baumann, Britta, Audo, Isabelle, Kohl, Susanne, Moore, Anthony T, Wiseman, R Luke, Carroll, Joseph, Lin, Jonathan H

المصدر: JCI Insight. 5(7)

مصطلحات موضوعية: Neurosciences, Prevention, Eye Disease and Disorders of Vision, Genetics, Neurodegenerative, Clinical Research, Aetiology, 2.1 Biological and endogenous factors, Eye, Activating Transcription Factor 6, Adolescent, Alleles, Base Sequence, Color Vision Defects, Exons, Female, HEK293 Cells, Humans, Male, Sequence Deletion, Cell stress, Ophthalmology

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/5m84w984Test

المؤلفون: Wissinger, Bernd, Baumann, Britta, Buena-Atienza, Elena, Ravesh, Zeinab, Cideciyan, Artur V., Stingl, Katarina, Audo, Isabelle, Meunier, Isabelle, Bocquet, Beatrice, Traboulsi, Elias I., Hardcastle, Alison J., Gardner, Jessica C., Michaelides, Michel, Branham, Kari E., Rosenberg, Thomas, Andreasson, Sten, Dollfus, Hélène, Birch, David, Vincent, Andrea L., Martorell, Loreto, Mora, Jaume Català, Kellner, Ulrich, Ruther, Klaus, Lorenz, Birgit, Preising, Markus N., Manfredini, Emanuela, Zarate, Yuri A., Vijzelaar, Raymon, Zrenner, Eberhart, Jacobson, Samuel G., Kohl, Susanne

المصدر: Proceedings of the National Academy of Sciences of the United States of America. 119(27)

مصطلحات موضوعية: BCM, gene conversion, human visual pigment genes, locus control region, opsin gene deletion, Medicin och hälsovetenskap, Medicinska och farmaceutiska grundvetenskaper, Medicinsk genetik, Medical and Health Sciences, Basic Medicine, Medical Genetics

الوصول الحر: https://lup.lub.lu.se/record/bee138ab-e193-48b1-8cc8-3481367ef539Test
http://dx.doi.org/10.1073/pnas.2115538119Test

المؤلفون: Burkard, Markus, Kohl, Susanne, Krätzig, Timm, Tanimoto, Naoyuki, Brennenstuhl, Christina, Bausch, Anne E, Junger, Katrin, Reuter, Peggy, Sothilingam, Vithiyanjali, Beck, Susanne C, Huber, Gesine, Ding, Xi-Qin, Mayer, Anja K, Baumann, Britta, Weisschuh, Nicole, Zobor, Ditta, Hahn, Gesa-Astrid, Kellner, Ulrich, Venturelli, Sascha, Becirovic, Elvir, Issa, Peter Charbel, Koenekoop, Robert K, Rudolph, Günther, Heckenlively, John, Sieving, Paul, Weleber, Richard G, Hamel, Christian, Zong, Xiangang, Biel, Martin, Lukowski, Robert, Seeliger, Matthias W, Michalakis, Stylianos, Wissinger, Bernd, Ruth, Peter

المصدر: Journal of Clinical Investigation. 128(12)

مصطلحات موضوعية: Genetics, Neurosciences, Brain Disorders, Eye Disease and Disorders of Vision, Aetiology, 2.1 Biological and endogenous factors, Eye, Amino Acid Substitution, Animals, Color Vision Defects, Cyclic Nucleotide-Gated Cation Channels, Disease Models, Animal, HEK293 Cells, Heterozygote, Humans, Ion Channel Gating, Mice, Mice, Transgenic, Mutation, Mutation, Missense, Retinal Cone Photoreceptor Cells, Retinal Diseases, Molecular genetics, Ophthalmology, Retinopathy, Medical and Health Sciences, Immunology

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/3tx4n83zTest

المؤلفون: Wissinger, Bernd, Baumann, Britta, Buena-Atienza, Elena, Gross, Caspar, Kohl, Susanne

المصدر: NPJ Genomic Medicine; 5/4/2024, Vol. 9 Issue 1, p1-5, 5p

المؤلفون: Stingl, Katarina, Baumann, Britta, De Angeli, Pietro, Vincent, Ajoy, Heon, Elise, Cordonnier, Monique, De Baere, Elfride, Raskin, Salmo, Sato, Mario Teruo, Shiokawa, Naoye, Kohl, Susanne, Wissinger, Bernd

المصدر: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES ; ISSN: 1422-0067

مصطلحات موضوعية: Medicine and Health Sciences, Biology and Life Sciences, COLOR-VISION, MOLECULAR-GENETICS, HUMAN RED, MYOPIA, GREEN, BLUE, MONOCHROMACY, GENES, cone photoreceptor LWS and MWS opsin genes, haplotype, exonic splicing defect, minigene assay, Blue Cone Monochromacy, Bornholm Eye Disease

وصف الملف: application/pdf

العلاقة: https://biblio.ugent.be/publication/01HTY8ND6FRG7RQ5QAS1BT3138Test; http://hdl.handle.net/1854/LU-01HTY8ND6FRG7RQ5QAS1BT3138Test; http://doi.org/10.3390/ijms23126868Test; https://biblio.ugent.be/publication/01HTY8ND6FRG7RQ5QAS1BT3138/file/01HTY8PNY5CKZWDKBZCGMR9YQFTest

الإتاحة: https://doi.org/10.3390/ijms23126868Test
https://biblio.ugent.be/publication/01HTY8ND6FRG7RQ5QAS1BT3138Test
http://hdl.handle.net/1854/LU-01HTY8ND6FRG7RQ5QAS1BT3138Test
https://biblio.ugent.be/publication/01HTY8ND6FRG7RQ5QAS1BT3138/file/01HTY8PNY5CKZWDKBZCGMR9YQFTest

المؤلفون: Chang, Bo, Grau, Tanja, Dangel, Susann, Hurd, Ron, Jurklies, Bernhard, Sener, E. Cumhur, Andréasson, Sten, Dollfus, Helene, Baumann, Britta, Bolz, Sylvia, Artemyev, Nikolai, Kohl, Susanne, Heckenlively, John, Wissinger, Bernd

المصدر: Proceedings of the National Academy of Sciences. 106(46):19581-19586

مصطلحات موضوعية: phosphodiesterase, cone photoreceptor, hereditary retinal disorder, Medicin och hälsovetenskap, Klinisk medicin, Oftalmologi, Medical and Health Sciences, Clinical Medicine, Ophthalmology

الوصول الحر: https://lup.lub.lu.se/record/1517941Test
http://dx.doi.org/10.1073/pnas.0907720106Test

المؤلفون: Zobor, Ditta, Zobor, Gergely, Hipp, Stephanie, Baumann, Britta, Weisschuh, Nicole, Biskup, Saskia, Sliesoraityte, Ieva, Zrenner, Eberhart, Kohl, Susanne

مصطلحات موضوعية: RP1L1 gene, occult macular dystrophy, retinitis pigmentosa

جغرافية الموضوع: UMW:14619

وصف الملف: text/html

العلاقة: vignette : https://repositorium.meduniwien.ac.at/titlepage/urn/urn:nbn:at:at-ubmuw:3-41382/128Test; urn:nbn:at:at-ubmuw:3-41382; https://resolver.obvsg.at/urn:nbn:at:at-ubmuw:3-41382Test; local:99145986752003331; system:AC16195684

الإتاحة: https://doi.org/10.1167/iovs.18-24033Test
https://resolver.obvsg.at/urn:nbn:at:at-ubmuw:3-41382Test

المؤلفون: Matet, Alexandre, Kohl, Susanne, Baumann, Britta, Antonio, Aline, Mohand-Said, Saddek, Sahel, José-Alain, Audo, Isabelle

المصدر: Scientific Reports ; volume 8, issue 1 ; ISSN 2045-2322

مصطلحات موضوعية: Multidisciplinary

الإتاحة: https://doi.org/10.1038/s41598-018-23919-wTest
https://www.nature.com/articles/s41598-018-23919-w.pdfTest
https://www.nature.com/articles/s41598-018-23919-wTest

المؤلفون: Baumann, Britta, Wissinger, Bernd, Kohl, Susanne

الوقت: 570, 610

العلاقة: http://www.molvis.org/molvis/v28/21Test/; http://hdl.handle.net/10900/135875Test; http://dx.doi.org/10.15496/publikation-77226Test

الإتاحة: https://doi.org/10.15496/publikation-77226Test
http://hdl.handle.net/10900/135875Test