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

URL الوصول: https://escholarship.org/uc/item/3tx4n83z

المؤلفون: Mayer, Anja K., Balousha, Ghassan, Sharkia, Rajech, Mahajnah, Muhammad, Ayesh, Suhail, Schulze, Martin, Buchert, Rebecca, Zobor, Ditta, Azem, Abdussalam, Schöls, Ludger, Bauer, Peter, Wissinger, Bernd

المساهمون: Deutsche Forschungsgemeinschaft

المصدر: European Journal of Human Genetics ; volume 28, issue 6, page 742-753 ; ISSN 1018-4813 1476-5438

الاتاحة: http://dx.doi.org/10.1038/s41431-019-0566-3
http://www.nature.com/articles/s41431-019-0566-3.pdf
http://www.nature.com/articles/s41431-019-0566-3

المؤلفون: Mayer, Anja K, Mahajnah, Muhammad, Thomas, Mervyn G, Cohen, Yuval, Habib, Adib, Schulze, Martin, Maconachie, Gail D.E, AlMoallem, Basamat, De Baere, Elfride, Lorenz, Birgit, Traboulsi, Elias I, Kohl, Susanne, Azem, Abdussalam, Bauer, Peter, Gottlob, Irene, Sharkia, Rajech, Wissinger, Bernd

المساهمون: German Research Foundation, DFG, Trilateral Cooperation Project, Ludger Schöls, Hertie Institute for Clinical Brain Research, University of Tübingen, Fight for Sight, Ghent University Special Research Fund, Senior Clinical Investigator of the Research Foundation Flanders, FWO, NIHR

المصدر: Brain ; volume 142, issue 6, page 1528-1534 ; ISSN 0006-8950 1460-2156

الاتاحة: https://doi.org/10.1093/brain/awz098
http://academic.oup.com/brain/advance-article-pdf/doi/10.1093/brain/awz098/28496172/awz098.pdf
http://academic.oup.com/brain/article-pdf/142/6/1528/28706697/awz098.pdf

المؤلفون: Van Schil, Kristof, Naessens, Sarah, Van de Sompele, Stijn, Carron, Marjolein, Aslanidis, Alexander, Van Cauwenbergh, Caroline, Mayer, Anja K., Van Heetvelde, Mattias, Bauwens, Miriam, Verdin, Hannah, Coppieters, Frauke, Greenberg, Michael E., Yang, Marty G., Karlstetter, Marcus, Langmann, Thomas, De Preter, Katleen, Kohl, Susanne, Cherry, Timothy J., Leroy, Bart P., De Baere, Elfride, Lupski, James R, Carvalho, Claudia, van Min, Max, Klous, Petra, De Jaegere, Sarah, Hooghe, Sally

المصدر: Genetics in Medicine ; volume 21, issue 8, page 1898 ; ISSN 1098-3600

الاتاحة: https://doi.org/10.1038/s41436-018-0305-0
http://www.nature.com/articles/s41436-018-0305-0.pdf
http://www.nature.com/articles/s41436-018-0305-0
https://api.elsevier.com/content/article/PII:S1098360021015999?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1098360021015999?httpAccept=text/plain

المؤلفون: Van Schil, Kristof, Naessens, Sarah, Van de Sompele, Stijn, Carron, Marjolein, Aslanidis, Alexander, Van Cauwenbergh, Caroline, Mayer, Anja K., Van Heetvelde, Mattias, Bauwens, Miriam, Verdin, Hannah, Coppieters, Frauke, Greenberg, Michael E., Yang, Marty G., Karlstetter, Marcus, Langmann, Thomas, De Preter, Katleen, Kohl, Susanne, Cherry, Timothy J., Leroy, Bart P., Lupski, James R., Carvalho, Claudia, van Min, Max, Klous, Petra, De Jaegere, Sarah, Hooghe, Sally, De Baere, Elfride

المصدر: Genetics in Medicine ; volume 20, issue 2, page 202-213 ; ISSN 1098-3600

الاتاحة: http://dx.doi.org/10.1038/gim.2017.97
http://www.nature.com/articles/gim201797.pdf
http://www.nature.com/articles/gim201797
https://api.elsevier.com/content/article/PII:S1098360021019092?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1098360021019092?httpAccept=text/plain
http://www.nature.com/doifinder/10.1038/gim.2017.97

المؤلفون: Stingl, Katarina, Mayer, Anja K., Llavona, Pablo, Mulahasanovic, Lejla, Rudolph, Günther, Jacobson, Samuel G., Zrenner, Eberhart, Kohl, Susanne, Wissinger, Bernd, Weisschuh, Nicole

المصدر: Scientific Reports ; volume 7, issue 1 ; ISSN 2045-2322

الاتاحة: http://dx.doi.org/10.1038/s41598-017-07117-8
https://www.nature.com/articles/s41598-017-07117-8
https://www.nature.com/articles/s41598-017-07117-8.pdf

المؤلفون: Weisschuh, Nicole, Mayer, Anja K, Strom, Tim M, Kohl, Susanne, Glöckle, Nicola, Schubach, Max, Andréasson, Sten, Bernd, Antje, Birch, David G, Hamel, Christian P, Heckenlively, John R, Jacobson, Samuel G, Kamme, Christina, Kellner, Ulrich, Kunstmann, Erdmute, Maffei, Pietro, Reiff, Charlotte M, Rohrschneider, Klaus, Rosenberg, Thomas, Rudolph, Günther, Vámos, Rita, Varsányi, Balázs, Weleber, Richard G, Wissinger, Bernd

المصدر: PLoS ONE. 11(1)

مصطلحات موضوعية: Medicin och hälsovetenskap, Klinisk medicin, Oftalmologi, Medical and Health Sciences, Clinical Medicine, Ophthalmology

URL الوصول: https://lup.lub.lu.se/record/8589150
http://www.ncbi.nlm.nih.gov/pubmed/26766544?dopt=Abstract
http://dx.doi.org/10.1371/journal.pone.0145951

المؤلفون: Mayer, Anja K, Rohrschneider, Klaus, Strom, Tim M, Glöckle, Nicola, Kohl, Susanne, Wissinger, Bernd, Weisschuh, Nicole

المصدر: European Journal of Human Genetics ; volume 24, issue 3, page 459-462 ; ISSN 1018-4813 1476-5438

الاتاحة: http://dx.doi.org/10.1038/ejhg.2015.144
http://www.nature.com/articles/ejhg2015144.pdf
http://www.nature.com/articles/ejhg2015144

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, Charbel Issa, Peter, 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

المساهمون: Institute of Human Genetics Erlangen, Allemagne, Friedrich-Alexander Universität Erlangen-Nürnberg = University of Erlangen-Nuremberg (FAU), Institut des Neurosciences de Montpellier (INM), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier)

المصدر: ISSN: 0021-9738 ; Journal of Clinical Investigation ; https://hal.science/hal-02313520 ; Journal of Clinical Investigation, 2018, 128 (12), pp.5663--5675. ⟨10.1172/JCI96098⟩.

مصطلحات موضوعية: [SDV]Life Sciences [q-bio]

Relation: hal-02313520; https://hal.science/hal-02313520; PUBMEDCENTRAL: PMC6264655

الاتاحة: https://hal.science/hal-02313520
https://doi.org/10.1172/JCI96098

المؤلفون: Schmidt, Jana, Mayer, Anja K, Bakula, Daniela, Freude, Jasmin, Weber, Jonasz J, Weiss, Andreas, Riess, Olaf, Schmidt, Thorsten

المساهمون: Fritz Thyssen Stiftung, National Ataxia Foundation

المصدر: Human Molecular Genetics ; volume 28, issue 9, page 1463-1473 ; ISSN 0964-6906 1460-2083

الاتاحة: http://dx.doi.org/10.1093/hmg/ddy437
http://academic.oup.com/hmg/article-pdf/28/9/1463/28378568/ddy437.pdf

المؤلفون: Mayer, Anja K, Van Cauwenbergh, Caroline, Rother, Christine, Baumann, Britta, Reuter, Peggy, De Baere, Elfride, Wissinger, Bernd, Kohl, Susanne

المصدر: HUMAN MUTATION ; ISSN: 1059-7794

مصطلحات موضوعية: Medicine and Health Sciences, Biology and Life Sciences, CGMP-GATED CHANNEL, ALPHA-SUBUNIT, TOTAL COLOURBLINDNESS, GENETIC-BASIS, CONE, DEGENERATION, DISORDERS, PHENOTYPE, ALIGNMENT, VARIANTS, achromatopsia, CNGB3, copy number variations, mutation spectrum and prevalence

وصف الملف: application/pdf

Relation: https://biblio.ugent.be/publication/8529929; http://hdl.handle.net/1854/LU-8529929; http://dx.doi.org/10.1002/humu.23311; https://biblio.ugent.be/publication/8529929/file/8529930

الاتاحة: https://biblio.ugent.be/publication/8529929
http://hdl.handle.net/1854/LU-8529929
https://doi.org/10.1002/humu.23311
https://biblio.ugent.be/publication/8529929/file/8529930

المؤلفون: Schmidt, Jana, Mayer, Anja K, Bakula, Daniela, Freude, Jasmin, Weber, Jonasz J, Weiss, Andreas, Riess, Olaf, Schmidt, Thorsten

المصدر: Human Molecular Genetics; May2019, Vol. 28 Issue 9, p1463-1473, 11p

المؤلفون: Mayer, Anja K., Bartz, Holger, Fey, Fabian, Schmidt, Lotte M., Dalpke, Alexander H.

المصدر: European Journal of Immunology ; volume 38, issue 6, page 1689-1699 ; ISSN 0014-2980 1521-4141

الاتاحة: http://dx.doi.org/10.1002/eji.200737936
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Feji.200737936
https://onlinelibrary.wiley.com/doi/pdf/10.1002/eji.200737936

المؤلفون: Mayer, Anja K., Dalpke, Alexander H.

المصدر: Archivum Immunologiae et Therapiae Experimentalis ; volume 55, issue 6, page 353-362 ; ISSN 0004-069X 1661-4917

الاتاحة: http://dx.doi.org/10.1007/s00005-007-0041-7
http://link.springer.com/content/pdf/10.1007/s00005-007-0041-7.pdf
http://link.springer.com/article/10.1007/s00005-007-0041-7/fulltext.html
http://link.springer.com/content/pdf/10.1007/s00005-007-0041-7

المؤلفون: Wintermantel, Tim M., Mayer, Anja K., Schütz, Günther, Greiner, Erich F.

المساهمون: EC, Bundesministerium für Bildung und Forschung (BMBF), Volkswagen-Stiftung

المصدر: genesis ; volume 33, issue 3, page 125-130 ; ISSN 1526-954X 1526-968X

الاتاحة: http://dx.doi.org/10.1002/gene.10097
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fgene.10097
https://onlinelibrary.wiley.com/doi/pdf/10.1002/gene.10097

المؤلفون: Mayer, Anja K, Rohrschneider, Klaus, Strom, Tim M, Glöckle, Nicola, Kohl, Susanne, Wissinger, Bernd, Weisschuh, Nicole

المصدر: European Journal of Human Genetics: EJHG; March 2016, Vol. 24 Issue: 3 p459-462, 4p

المؤلفون: Kohl, Susanne, Baumann, Britta, Dassie, Francesca, Mayer, Anja K., Solaki, Maria, Reuter, Peggy, Kühlewein, Laura, Wissinger, Bernd, Maffei, Pietro

المصدر: International Journal of Molecular Sciences; Aug2021, Vol. 22 Issue 15, p7842-7842, 1p

مصطلحات موضوعية: VISION disorders, CHROMOSOMES, GENETIC variation, COLOR vision, RETINAL diseases, RECESSIVE genes, DYSTROPHY

المؤلفون: Weisschuh, Nicole, Mayer, Anja K., Strom, Tim M., Kohl, Susanne, Glöckle, Nicola, Schubach, Max, Andreasson, Sten, Bernd, Antje, Birch, David G., Hamel, Christian P., Heckenlively, John R., Jacobson, Samuel G., Kamme, Christina, Kellner, Ulrich, Kunstmann, Erdmute, Maffei, Pietro, Reiff, Charlotte M., Rohrschneider, Klaus, Rosenberg, Thomas, Rudolph, Günther, Vámos, Rita, Varsányi, Balázs, Weleber, Richard G., Wissinger, Bernd

مصطلحات موضوعية: 600 Technik, Medizin, angewandte Wissenschaften::610 Medizin und Gesundheit, 3. Good health

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::211787abb1b66159822d913869e394a4