يعرض 1 - 10 نتائج من 61 نتيجة بحث عن '"Ebermann, Inga"', وقت الاستعلام: 1.37s تنقيح النتائج
  1. 1
    Einführung Tablet-basierter Multiple Choice-Klausuren aus Sicht der Prüflinge

    المؤلفون: Karsten, Gudrun R., Ebermann, Inga, Reim, Cornelia, Cascorbi, Ingolf

    مصطلحات موضوعية: Medicine and health

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::4c7b758c833036d0413a80bfc1d516e3Test


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  2. 2
    دورية أكاديمية
    Non-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease gene

    المؤلفون: Elsayed, Solaf M, Phillips, Jennifer B, Heller, Raoul, Thoenes, Michaela, Elsobky, Ezzat, Nürnberg, Gudrun, Nürnberg, Peter, Seland, Saskia, Ebermann, Inga, Altmüller, Janine, Thiele, Holger, Toliat, Mohammad, Körber, Friederike, Hu, Xue-Jia, Wu, Yun-Dong, Zaki, Maha S, Abdel-Salam, Ghada, Gleeson, Joseph, Boltshauser, Eugen, Westerfield, Monte, Bolz, Hanno J

    المصدر: Elsayed, Solaf M; Phillips, Jennifer B; Heller, Raoul; Thoenes, Michaela; Elsobky, Ezzat; Nürnberg, Gudrun; Nürnberg, Peter; Seland, Saskia; Ebermann, Inga; Altmüller, Janine; Thiele, Holger; Toliat, Mohammad; Körber, Friederike; Hu, Xue-Jia; Wu, Yun-Dong; Zaki, Maha S; Abdel-Salam, Ghada; Gleeson, Joseph; Boltshauser, Eugen; Westerfield, Monte; Bolz, Hanno J (2015). Non-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease gene. Human Molecular Genetics, 24(9):2594-2603.

    مصطلحات موضوعية: Medical Clinic, 610 Medicine & health

    وصف الملف: application/pdf

    العلاقة: https://www.zora.uzh.ch/id/eprint/121029/1/ElsayedSM,%202015.pdfTest; info:pmid/25616960; urn:issn:0964-6906

    الإتاحة: https://doi.org/10.5167/uzh-12102910.1093/hmg/ddv022Test
    https://www.zora.uzh.ch/id/eprint/121029Test/
    https://www.zora.uzh.ch/id/eprint/121029/1/ElsayedSM,%202015.pdfTest

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  3. 3
    دورية أكاديمية
    OSBPL2 encodes a protein of inner and outer hair cell stereocilia and is mutated in autosomal dominant hearing loss (DFNA67)

    المؤلفون: Thoenes, Michaela, Zimmermann, Ulrike, Ebermann, Inga, Ptok, Martin, Lewis, Morag A., Thiele, Holger, Morlot, Susanne, Hess, Markus M., Gal, Andreas, Eisenberger, Tobias, Bergmann, Carsten, Nürnberg, Gudrun, Nürnberg, Peter, Steel, Karen P., Knipper, Marlies, Bolz, Hanno Jörn

    المصدر: Thoenes , M , Zimmermann , U , Ebermann , I , Ptok , M , Lewis , M A , Thiele , H , Morlot , S , Hess , M M , Gal , A , Eisenberger , T , Bergmann , C , Nürnberg , G , Nürnberg , P , Steel , K P , Knipper , M & Bolz , H J 2015 , ' OSBPL2 encodes a protein of inner and outer hair cell stereocilia and is mutated in autosomal dominant hearing loss (DFNA67) ' , Orphanet Journal of Rare Diseases , vol. ....

    مصطلحات موضوعية: Autosomal dominant hearing loss, DFNA67, OSBPL2

    وصف الملف: application/pdf

    الإتاحة: https://doi.org/10.1186/s13023-015-0238-5Test
    https://kclpure.kcl.ac.uk/portal/en/publications/ef5d23b7-d310-4e5a-bbf1-ebbf09246cf0Test
    https://kclpure.kcl.ac.uk/ws/files/54329127/OSBPL2_encodes_a_protein_THOENES_Accepted_3Feb2015_GOLD_VoR.pdfTest
    http://www.scopus.com/inward/record.url?scp=84924187378&partnerID=8YFLogxKTest

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  4. 4
    دورية أكاديمية
    Non-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease gene

    المؤلفون: Elsayed, Solaf M., Phillips, Jennifer B., Heller, Raoul, Thoenes, Michaela, Elsobky, Ezzat, Nürnberg, Gudrun, Nürnberg, Peter, Seland, Saskia, Ebermann, Inga, Altmüller, Janine, Thiele, Holger, Toliat, Mohammad, Körber, Friederike, Hu, Xue-Jia, Wu, Yun-Dong, Zaki, Maha S., Abdel-Salam, Ghada, Gleeson, Joseph, Boltshauser, Eugen, Westerfield, Monte, Bolz, Hanno J.

    مصطلحات موضوعية: ARTICLES

    وصف الملف: text/html

    العلاقة: http://hmg.oxfordjournals.org/cgi/content/short/24/9/2594Test; http://dx.doi.org/10.1093/hmg/ddv022Test

    الإتاحة: https://doi.org/10.1093/hmg/ddv022Test
    http://hmg.oxfordjournals.org/cgi/content/short/24/9/2594Test

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  5. 5
    Identifizierung und funktionelle Charakterisierung von Genen des Usher-Syndroms

    المؤلفون: Ebermann, Inga.

    الإتاحة: http://nbn-resolving.de/urn:nbn:de:hbz:38-28591Test
    http://kups.ub.uni-koeln.de/volltexte/2009/2859/pdf/Dissertation_Ebermann._Inga.pdfTest
    http://kups.ub.uni-koeln.de/volltexte/2009/2859/index.htmlTest
    http://d-nb.info/998998907/34Test


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  6. 6
    دورية أكاديمية
    Autosomal dominant SCA5 and autosomal recessive infantile SCA are allelic conditions resulting from SPTBN2 mutations

    المؤلفون: Elsayed, Solaf M, Heller, Raoul, Thoenes, Michaela, Zaki, Maha S, Swan, Daniel, Elsobky, Ezzat, Zühlke, Christine, Ebermann, Inga, Nürnberg, Gudrun, Nürnberg, Peter, Bolz, Hanno J

    المصدر: European Journal of Human Genetics ; volume 22, issue 2, page 286-288 ; ISSN 1018-4813 1476-5438

    مصطلحات موضوعية: Genetics (clinical), Genetics

    الإتاحة: https://doi.org/10.1038/ejhg.2013.150Test
    http://www.nature.com/articles/ejhg2013150.pdfTest
    http://www.nature.com/articles/ejhg2013150Test

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  7. 7
    دورية أكاديمية
    Localization of Usher 1 proteins to the photoreceptor calyceal processes, which are absent from mice. ; Localization of Usher 1 proteins to the photoreceptor calyceal processes, which are absent from mice.: Usher 1 retinal pathogenesis

    المؤلفون: Sahly, Iman, Dufour, Eric, Schietroma, Cataldo, Michel, Vincent, Bahloul, Amel, Perfettini, Isabelle, Pepermans, Elise, Estivalet, Amrit, Carette, Diane, Aghaie, Asadollah, Ebermann, Inga, Lelli, Andrea, Iribarne, Maria, Hardelin, Jean-Pierre, Weil, Dominique, Sahel, José-Alain, El-Amraoui, Aziz, Petit, Christine

    المساهمون: Institut de la Vision, Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Collège de France - Chaire Génétique et physiologie cellulaire, Collège de France (CdF (institution)), European Union Seventh Framework Program, under grant agreement HEALTH-F2-2010-242013 (TREATRUSH), LHW-Stiftung, Fondation Raymonde & Guy Strittmatter, Fighting Blindness, FAUN Stiftung (Suchert Foundation), Conny Maeva Charitable Foundation, Fondation Orange, ERC grant 294570-hairbundle, and Louis-Jeantet Foundation (C. Petit), French State program "Investissements d'Avenir" managed by the Agence Nationale de la Recherche (grant reference: ANR-10-LBX-65), Foundation Fighting Blindness Paris Center Grant and Fondation Voir et Entendre (C. Petit and J.-A. Sahel), and ANR-07-MRARE-009-01 grant to A. El-Amraoui.

    المصدر: ISSN: 0021-9525.

    مصطلحات موضوعية: Usher syndrome, photoreceptor cells, calyceal processes, adhesion, outer segment, [SDV.MHEP.OS]Life Sciences [q-bio]/Human health and pathology/Sensory Organs

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/23045546; inserm-00743698; https://inserm.hal.science/inserm-00743698Test; https://inserm.hal.science/inserm-00743698/documentTest; https://inserm.hal.science/inserm-00743698/file/JCellBiolSahlyetal381.full.pdfTest; PUBMED: 23045546

    الإتاحة: https://doi.org/10.1083/jcb.201202012Test
    https://inserm.hal.science/inserm-00743698Test
    https://inserm.hal.science/inserm-00743698/documentTest
    https://inserm.hal.science/inserm-00743698/file/JCellBiolSahlyetal381.full.pdfTest

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  8. 8
    دورية أكاديمية
    Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3

    المؤلفون: Eisenberger, Tobias, Slim, Rima, Bolz, Hanno Jörn, Mansour, Ahmad, Nauck, Markus, Nürnberg, Gudrun, Nürnberg, Peter, Decker, Christian, Dafinger, Claudia, Ebermann, Inga, Bergmann, Carsten

    المصدر: Orphanet journal of rare diseases 7, 59 (2012). doi:10.1186/1750-1172-7-59

    جغرافية الموضوع: DE

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/pmid:22938382; info:eu-repo/semantics/altIdentifier/wos/WOS:000312256400001; info:eu-repo/semantics/altIdentifier/issn/1750-1172; https://publications.rwth-aachen.de/record/211053Test; https://publications.rwth-aachen.de/search?p=id:%22RWTH-CONV-073803%22Test

    الإتاحة: https://doi.org/10.1186/1750-1172-7-59Test
    https://doi.org/10.18154/RWTH-CONV-073803Test
    https://publications.rwth-aachen.de/record/211053Test
    https://publications.rwth-aachen.de/search?p=id:%22RWTH-CONV-073803%22Test

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  9. 9
    دورية أكاديمية
    Characterization of Severe Rod-Cone Dystrophy in a Consanguineous Family with a Splice Site Mutation in the MERTK Gene

    المؤلفون: Charbel Issa, Peter, Bolz, Hanno J, Ebermann, Inga, Domeier, Erik, Holz, Frank G, Scholl, Hendrik P N

    المساهمون: Department of Ophthalmology, University of Bonn, Institute of Human Genetics, University Hospital of Cologne

    المصدر: ISSN: 0007-1161.

    مصطلحات موضوعية: Retina, Genetics, Dystrophy, MERTK, cone-rod dystrophy, rcs rat, retinitis pigmentosa

    العلاقة: hal-00477817; https://hal.archives-ouvertes.fr/hal-00477817Test; https://hal.archives-ouvertes.fr/hal-00477817/documentTest; https://hal.archives-ouvertes.fr/hal-00477817/file/PEER_stage2_10.1136%252Fbjo.2008.147397.pdfTest

    الإتاحة: https://doi.org/10.1136/bjo.2008.147397Test
    https://hal.archives-ouvertes.fr/hal-00477817Test
    https://hal.archives-ouvertes.fr/hal-00477817/documentTest
    https://hal.archives-ouvertes.fr/hal-00477817/file/PEER_stage2_10.1136%252Fbjo.2008.147397.pdfTest

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  10. 10
    دورية أكاديمية
    A novel VPS13B mutation in two brothers with Cohen syndrome, cutis verticis gyrata and sensorineural deafness

    المؤلفون: Mégarbané, André, Slim, Rima, Nürnberg, Gudrun, Ebermann, Inga, Nürnberg, Peter, Bolz, Hanno Jörn

    المصدر: European Journal of Human Genetics ; volume 17, issue 8, page 1076-1079 ; ISSN 1018-4813 1476-5438

    مصطلحات موضوعية: Genetics (clinical), Genetics

    الإتاحة: https://doi.org/10.1038/ejhg.2008.273Test
    http://www.nature.com/articles/ejhg2008273.pdfTest
    http://www.nature.com/articles/ejhg2008273Test

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