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: Astuti, Galuh, Sun, Vincent, Bauwens, Miriam, Zobor, Ditta, Leroy, Bart, Omar, Amer, Jurklies, Bernhard, Lopez, Irma, Ren, Huanan, Yazar, Volkan, Hamel, Christian, Kellner, Ulrich, Wissinger, Bernd, Kohl, Susanne, de Baere, Elfride, Collin, Rob, Koenekoop, Robert

المساهمون: Department of Human Genetics Nijmegen, Radboud University Medical Center Nijmegen, Radboud Institute for Molecular Life Sciences Nijmegen, the Netherlands, Division of Human Genetics Semarang, Indonesia (Center for Biomedical Research), Faculty of Medicine Semarang, Indonesia, Diponegoro University Semarang, Indonesia -Diponegoro University Semarang, Indonesia, McGill Ocular Genetics Laboratory Montreal, QC, Canada, Departments of Paediatric Surgery, Human Genetics and Ophthalmology Montreal, QC, Canada, Montreal Children's Hospital, McGill University Health Center Montreal (MUHC)-McGill University Health Center Montreal (MUHC)-Montreal Children's Hospital, McGill University Health Center Montreal (MUHC)-McGill University Health Center Montreal (MUHC), Center for Medical Genetics Ghent, Ghent University Hospital, Institute for Ophthalmic Research Tübingen, Germany (Centre for Ophthalmology), University of Tübingen, Department of Ophthalmology Ghent, Belgium, Moorfields Eye Hospital, Department of Ophthalmology Essen, Germany, University of Duisbourg-Essen, Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier), Institut des Neurosciences de Montpellier (INM), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Rare Retinal Disease Center Siegburg, Germany, AugenZentrum Siegburg-MVZ ADTC Siegburg GmbH Germany, R. K. K. was supported by the Foundation Fighting Blindness Canada, the CIHR, FRSQ, and National Institutes of Health. The research of G. D. N. A. is supported by the Directorate General for Higher Education in Indonesia (DIKTI) of the Ministry for National Education of Indonesia and the Radboud University Medical Centre, Nijmegen, The Netherlands. R. W. J. C. was supported by the Netherlands Organisation for Scientific Research (TOPgrant 91209047). B. P. L. and E. D. B. are senior clinical investigators of the Fund for Research Flanders (FWO). M. B. W. is recipient of a doctoral studentship from the FWO. B. W. and S. K. were supported by a grant (HOPE2, 01GM1108A) of the German Ministry of Education and Research (BMBF).

المصدر: ISSN: 2324-9269 ; Molecular Genetics and Genomic Medicine ; https://hal.umontpellier.fr/hal-02128840Test ; Molecular Genetics and Genomic Medicine, 2015, 3 (1), pp.14-29. ⟨10.1002/mgg3.109⟩.

مصطلحات موضوعية: Bietti, CYP4V2, crystalline dystrophy, retinal dystrophy, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/25629076; hal-02128840; https://hal.umontpellier.fr/hal-02128840Test; https://hal.umontpellier.fr/hal-02128840/documentTest; https://hal.umontpellier.fr/hal-02128840/file/mgg3.109.pdfTest; PUBMED: 25629076; PUBMEDCENTRAL: PMC4299712

الإتاحة: https://doi.org/10.1002/mgg3.109Test
https://hal.umontpellier.fr/hal-02128840Test
https://hal.umontpellier.fr/hal-02128840/documentTest
https://hal.umontpellier.fr/hal-02128840/file/mgg3.109.pdfTest

المؤلفون: Astuti, Galuh D. N., Sun, Vincent, Bauwens, Miriam, Zobor, Ditta, Leroy, Bart P., Omar, Amer, Jurklies, Bernhard, Lopez, Irma, Ren, Huanan, Yazar, Volkan, Hamel, Christian, Kellner, Ulrich, Wissinger, Bernd, Kohl, Susanne, De Baere, Elfride, Collin, Rob W. J., Koenekoop, Robert K.

المساهمون: Foundation Fighting Blindness, Fonds de Recherche du Québec - Santé, Canadian Institutes of Health Research

المصدر: Molecular Genetics & Genomic Medicine ; volume 3, issue 1, page 14-29 ; ISSN 2324-9269 2324-9269

الإتاحة: https://doi.org/10.1002/mgg3.109Test

المؤلفون: 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

مصطلحات موضوعية: ARTICLES

وصف الملف: text/html

العلاقة: http://hmg.oxfordjournals.org/cgi/content/short/20/4/719Test; http://dx.doi.org/10.1093/hmg/ddq517Test

الإتاحة: https://doi.org/10.1093/hmg/ddq517Test
http://hmg.oxfordjournals.org/cgi/content/short/20/4/719Test

المؤلفون: Akgul, Harun, Otterbach, Friedrich, Bornfeld, Norbert, Jurklies, Bernhard

مصطلحات موضوعية: Original articles - Clinical science

وصف الملف: text/html

العلاقة: http://bjo.bmj.com/cgi/content/short/95/1/79Test; http://dx.doi.org/10.1136/bjo.2008.148395Test

الإتاحة: https://doi.org/10.1136/bjo.2008.148395Test
http://bjo.bmj.com/cgi/content/short/95/1/79Test

المؤلفون: Kernstock, Christoph, Kohl, Susanne, Zrenner, Eberhart, Sener, E. Cumhur, Andreasson, Sten, Jurklies, Bernhard, Dollfus, Helene, Haugen, Olav H., Rosenberg, Thomas, Artemyev, Nikolai O., Grau, Tanja, Wissinger, Bernd, Larsen, Michael

العلاقة: d450ac81-0869-4f10-95c7-8d73f282e4c6; https://avesis.hacettepe.edu.tr/publication/details/d450ac81-0869-4f10-95c7-8d73f282e4c6/oaiTest

الإتاحة: https://doi.org/10.1093/hmg/ddq517Test
https://avesis.hacettepe.edu.tr/publication/details/d450ac81-0869-4f10-95c7-8d73f282e4c6/oaiTest

المؤلفون: 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

مصطلحات موضوعية: Article

وصف الملف: text/html

العلاقة: http://hmg.oxfordjournals.org/cgi/content/short/ddq517v2Test; http://dx.doi.org/10.1093/hmg/ddq517Test

الإتاحة: https://doi.org/10.1093/hmg/ddq517Test
http://hmg.oxfordjournals.org/cgi/content/short/ddq517v2Test

المؤلفون: Lipski, Andreas Christoph, Eckstein, Anja, Esser, Joachim, Loesch, Christian, Mann, Klaus, Mohr, Christoph, Jurklies, Bernhard

المساهمون: Center for Ophthalmology, Univ. Essen, Institut für Medizinische Informatik, Universität Essen, Klinik für Endokrinologie, Universität Essen, Klinik für Mund-/ Kiefer- und Gesichtschirurgie, Huyssen-Stift, Essen

المصدر: ISSN: 0007-1161.

مصطلحات موضوعية: Optic Nerve, Orbit, Immunology, Electrophysiology, Treatment Surgery

العلاقة: hal-00558527; https://hal.archives-ouvertes.fr/hal-00558527Test; https://hal.archives-ouvertes.fr/hal-00558527/documentTest; https://hal.archives-ouvertes.fr/hal-00558527/file/PEER_stage2_10.1136%252Fbjo.2009.173658.pdfTest

الإتاحة: https://doi.org/10.1136/bjo.2009.173658Test
https://hal.archives-ouvertes.fr/hal-00558527Test
https://hal.archives-ouvertes.fr/hal-00558527/documentTest
https://hal.archives-ouvertes.fr/hal-00558527/file/PEER_stage2_10.1136%252Fbjo.2009.173658.pdfTest

المؤلفون: Lipski, Andreas, Bornfeld, Norbert, Jurklies, Bernhard

مصطلحات موضوعية: Original article - Clinical Science

وصف الملف: text/html

العلاقة: http://bjo.bmj.com/cgi/content/short/bjo.2007.134429v1Test; http://dx.doi.org/10.1136/bjo.2007.134429Test

الإتاحة: https://doi.org/10.1136/bjo.2007.134429Test
http://bjo.bmj.com/cgi/content/short/bjo.2007.134429v1Test

المؤلفون: Kohl, Susanne, Varsanyi, Balazs, Antunes, Gesine Abadin, Baumann, Britta, Hoyng, Carel B, Jägle, Herbert, Rosenberg, Thomas, Kellner, Ulrich, Lorenz, Birgit, Salati, Roberto, Jurklies, Bernhard, Farkas, Agnes, Andreasson, Sten, Weleber, Richard G, Jacobson, Samuel G, Rudolph, Günther, Castellan, Claudio, Dollfus, Helene, Legius, Eric, Anastasi, Mario, Bitoun, Pierre, Lev, Dorit, Sieving, Paul A, Munier, Francis L, Zrenner, Eberhart, Sharpe, Lindsay T, Cremers, Frans P M, Wissinger, Bernd

مصطلحات موضوعية: Genetics (clinical), Genetics

العلاقة: url:https://www.openaccessrepository.it/communities/itmirrorTest; https://www.openaccessrepository.it/record/144466Test

الإتاحة: https://doi.org/10.1038/sj.ejhg.5201269Test
https://www.openaccessrepository.it/record/144466Test