Zobrazeno 1 - 10
of 82
pro vyhledávání: '"Bhf, Weber"'
Autor:
Bernd Auber, M Sturm, Andrea Gehrig, Christoph Engel, Hana Susak, U Faust, Peter Bauer, O. Riess, Eric Hahnen, Norbert Arnold, Christian Sutter, T Heinrich, Dieter Niederacher, Ulrich Bick, C Schroeder, H Huu Phuc Nguyen, K Bosse, S Wang-Gorke, K Grundman-Hauser, Stephan Ossowski, M Kehrer, Bhf Weber, Johannes R. Lemke, E Schröck, I Sepahi, B Dworniczak
Publikováno v:
Senologie - Zeitschrift für Mammadiagnostik und -therapie.
Autor:
Dorothee Speiser, B Schlegelberger, B Cierna, Tiemo Grimm, Nina Ditsch, K Kast, S Wesselmann, Christine Fischer, Anne S. Quante, Eric Hahnen, Kerstin Rhiem, Bhf Weber, J Mensah, Huu P. Nguyen, N Arnold, Alexander E Volk, Rita K. Schmutzler, E Fallenberg
Publikováno v:
Senologie - Zeitschrift für Mammadiagnostik und -therapie.
Publikováno v:
Journal of stem cellsregenerative medicine. 2(1)
Publikováno v:
Journal of stem cellsregenerative medicine. 2(1)
Publikováno v:
Klinische Monatsblätter für Augenheilkunde. 222
Autor:
J. Tomiuk, M. Dose, M. Kvasnicova, Béla Melegh, Helga Weirich-Schwaiger, H. W. Lange, L. Baliko, Bhf Weber, F. Kreuz, O. Riess, Massimo Pandolfo, J. Zidovska, L. Kadasi, E. Soydan, Stefano DiDonato, S. Metzger, Franco Laccone, Jörg T. Epplen, M. Stuhrmann, Peter Bauer, J. Zaremba, V. Kebrdlova, V. Havasi, A. Sulek, P. Ribai, Cinzia Gellera, A. N. Basak
Publikováno v:
Aktuelle Neurologie. 32
Autor:
Francesco Testa, N Hemmrich, G. Van Camp, R Santoss, J. C. Kaplan, S. Ingvast, Kris Flothmann, Francesca Simonelli, E Paloma, Carel B. Hoyng, Michele D'Urso, Alessandra Maugeri, Andres Metspalu, Reshma Patel, Paula Jorge, C Wadelius, Roser Gonzàlez-Duarte, Shomi S. Bhattacharya, Han G. Brunner, A C Bird, J Tammur, F. P. M. Cremers, Gjt Meerman, Susana Balcells, Jean-Michel Rozet, Marianne Schwartz, Bhf Weber, Rando Allikmets
Publikováno v:
EUROPEAN JOURNAL OF HUMAN GENETICS
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
European journal of human genetics
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
European Journal of Human Genetics, 10, 197-203
European Journal of Human Genetics, 10, 3, pp. 197-203
European Journal of Human Genetics, 10(3), 197-203. Nature Publishing Group
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
European journal of human genetics
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
European Journal of Human Genetics, 10, 197-203
European Journal of Human Genetics, 10, 3, pp. 197-203
European Journal of Human Genetics, 10(3), 197-203. Nature Publishing Group
Item does not contain fulltext Inherited retinal dystrophies represent the most important cause of vision impairment in adolescence, affecting approximately 1 out of 3000 individuals. Mutations of the photoreceptor-specific gene ABCA4 (ABCR) are a co
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fb6684b3297602d0c73d8b7733d5e5dc
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=11694
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=11694
Childhood, adolescent and young adulthood cancer risk in BRCA1 or BRCA2 pathogenic variant carriers.
Autor:
Li S; Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Melbourne, Victoria, Australia.; Precision Medicine, School of Clinical Sciences at Monash Health, Monash University, Clayton, Victoria, Australia.; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK., Madanat-Harjuoja L; Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.; Finnish Cancer Registry, Helsinki, Finland., Leslie G; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK., Barnes DR; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK., Bolla MK; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK., Dennis J; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK., Parsons MT; Public Health Division, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia., Apostolou P; Molecular Diagnostics Laboratory, INRASTES, National Centre for Scientific Research 'Demokritos', Athens, Greece., Arnold N; Department of Gynaecology and Obstetrics, University Hospital of Schleswig-Holstein, Campus Kiel, Christian-Albrechts University Kiel, Kiel, Germany.; Institute of Clinical Molecular Biology, University Hospital of Schleswig-Holstein, Campus Kiel, Christian-Albrechts University Kiel, Kiel, Germany., Bosse K; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., On Behalf Of Embrace Collaborators ACA; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK., Cook J; Sheffield Clinical Genetics Service, Sheffield Children's Hospital, Sheffield, UK., Engel C; Institute for Medical Informatics, Statistics and Epidemiology, University of Leipzig, Leipzig, Germany.; LIFE-Leipzig Research Centre for Civilization Diseases, University of Leipzig, Leipzig, Germany., Evans DG; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester, UK.; North West Genomics Laboratory Hub, Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK., Fostira F; Molecular Diagnostics Laboratory, INRASTES, National Centre for Scientific Research 'Demokritos', Athens, Greece., Frone MN; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, USA., Gehrig A; Department of Human Genetics, University Würzburg, Würzburg, Germany., Greene MH; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, USA., Hackmann K; Institute for Clinical Genetics, Faculty of Medicine Carl Gustav Carus, TU Dresden, Dresden, Germany., Hahnen E; Center for Familial Breast and Ovarian Cancer, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.; Center for Integrated Oncology (CIO), Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany., Harbeck N; Department of Gynecology and Obstetrics, University of Munich, Campus Großhadern, Munich, Germany., Hauke J; Center for Familial Breast and Ovarian Cancer, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.; Center for Integrated Oncology (CIO), Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.; Center for Molecular Medicine Cologne (CMMC), Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany., Hentschel J; Institute of Human Genetics, University Hospital Leipzig, Leipzig, Germany., Horvath J; Institute of Human Genetics, University of Münster, Münster, Germany., Izatt L; Clinical Genetics, Guy's and St Thomas' NHS Foundation Trust, London, UK., Kiechle M; Department of Gynaecology and Obstetrics, University Hospital Klinikum rechts der Isar, TUM School of Medicine and Health, Technical University of Munich, Munich, Germany., Konstantopoulou I; Molecular Diagnostics Laboratory, INRASTES, National Centre for Scientific Research 'Demokritos', Athens, Greece., Lalloo F; Manchester Centre for Genomic Medicine, Manchester University Hospitals NHS Foundation Trust, Manchester, UK., Yie JNY; Lee Kong Chian School of Medicine, Nanyang Technological University, Singapore.; Cancer Genetics Service, National Cancer Centre, Singapore., Niederacher D; Department of Gynecology and Obstetrics, University Hospital Düsseldorf, Heinrich-Heine University Düsseldorf, Düsseldorf, Germany., Ritter J; Institute of Medical and Human Genetics, Charité -Universitätsmedizin Berlin, Berlin, Germany., Santamariña M; Centro de Investigación en Red de Enfermedades Raras (CIBERER), Madrid, Spain.; Fundación Pública Galega de Medicina Xenómica, Santiago de Compostela, Spain.; Instituto de Investigación Sanitaria de Santiago de Compostela (IDIS), Complejo Hospitalario Universitario de Santiago, SERGAS, Santiago de Compostela, Spain., Schmutzler RK; Center for Familial Breast and Ovarian Cancer, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.; Center for Integrated Oncology (CIO), Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.; Center for Molecular Medicine Cologne (CMMC), Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany., Searle C; Department of Clinical Genetics, Nottingham University Hospitals NHS Trust, Nottingham, UK., Sutter C; Institute of Human Genetics, University Hospital Heidelberg, Heidelberg, Germany., Tischkowitz M; Department of Medical Genetics, National Institute for Health Research Cambridge Biomedical Research Centre, University of Cambridge, Cambridge, UK.; Program in Cancer Genetics, Departments of Human Genetics and Oncology, McGill University, Montréal, QC, Canada., Tripathi V; Clinical Genetics, Guy's and St Thomas' NHS Foundation Trust, London, UK., Vega A; Centro de Investigación en Red de Enfermedades Raras (CIBERER), Madrid, Spain.; Fundación Pública Galega de Medicina Xenómica, Santiago de Compostela, Spain.; Instituto de Investigación Sanitaria de Santiago de Compostela (IDIS), Complejo Hospitalario Universitario de Santiago, SERGAS, Santiago de Compostela, Spain., Wallaschek H; Institute of Human Genetics, Hannover Medical School, Hannover, Germany., Wang-Gohrke S; Department of Gynaecology and Obstetrics, University Hospital Ulm, Ulm, Germany., Wappenschmidt B; Center for Familial Breast and Ovarian Cancer, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.; Center for Integrated Oncology (CIO), Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany., Weber BHF; Institute of Human Genetics, University Regensburg, Regensberg, Germany.; Institute of Clinical Human Genetics, University Hospital Regensburg, Regensburg, Germany., Yannoukakos D; Molecular Diagnostics Laboratory, INRASTES, National Centre for Scientific Research 'Demokritos', Athens, Greece., Zhao E; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK., Easton DF; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.; Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK., Antoniou AC; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK., Chenevix-Trench G; Cancer Research Program, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia., Rebbeck TR; Harvard T.H. Chan School of Public Health, Boston, MA, USA.; Dana-Farber Cancer Institute, Boston, MA, USA., Diller LR; Department of Pediatric Oncology, Dana-Farber Cancer Institute, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.
Publikováno v:
Journal of the National Cancer Institute [J Natl Cancer Inst] 2024 Nov 25. Date of Electronic Publication: 2024 Nov 25.
Autor:
Zachariae S; Leipzig University, Germany., Quante AS; Technical University of Munich, Munich, Germany., Kiechle M; Technical University of Munich, Munich, Germany., Rhiem K; University of Cologne, Cologne, Germany., Fehm TN; Düsseldorf University Hospital, Düsseldorf, Germany., Schröder JG; Institute of Human Genetics, Biozentrum, Germany., Horvath J; University Hospital Münster, Muenster, Germany., Leinert E; University Hospital Ulm, Ulm, Germany., Dikow N; University Hospital Heidelberg, Heidelberg, Germany., Ronez J; Hannover Medical School, Germany., Schönfeld M; Ludwig-Maximilians-Universität München, Germany., van Mackelenbergh MT; University Hospital Schleswig-Holstein, Kiel, Germany., Schatz UA; Technische Universität München, Munich, Germany., Meisel C; University Hospital Carl Gustav Carus, Germany., Aktas B; University Hospital Leipzig, Leipzig, Germany., Witt D; University of Tübingen, Germany., Mehraein Y; Universitätsmedizin Göttingen, Germany., Weber BHF; University of Regensburg, Regensburg, Germany., Solbach C; Goethe University Frankfurt, Frankfurt, Germany., Speiser D; Charité - Universitätsmedizin Berlin, Germany., Hoyer J; Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Bavaria, Germany., Faigle-Krehl G; University Medical Center Freiburg, Germany., Much CD; Greifswald University Hospital, Germany., Mueller-Rausch AV; University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Villavicencio-Lorini P; Martin Luther University Halle-Wittenberg, Germany., Banys-Paluchowski M; University Hospital Schleswig-Holstein, Germany., Pieh D; University Medical Center of the Johannes Gutenberg University Mainz, Mainz, Rhineland-Palatine, Germany., Schmutzler RK; University Hospital Cologne, Germany., Fischer C; Heidelberg University, Heidelberg, Germany., Engel C; Leipzig University, Leipzig, Germany.
Publikováno v:
Cancer prevention research (Philadelphia, Pa.) [Cancer Prev Res (Phila)] 2024 Nov 22. Date of Electronic Publication: 2024 Nov 22.
Autor:
Kiel C; Institute of Human Genetics, University of Regensburg, Franz-Josef-Strauss-Allee 11, 93053, Regensburg, Germany., Biasella F; Institute of Human Genetics, University of Regensburg, Franz-Josef-Strauss-Allee 11, 93053, Regensburg, Germany., Stöhr H; Institute of Human Genetics, University of Regensburg, Franz-Josef-Strauss-Allee 11, 93053, Regensburg, Germany. heidi.stoehr@klinik.uni-regensburg.de., Rating P; Department of Ophthalmology, University Hospital Essen, Hufelandstraße 55, 45147, Essen, Germany., Spital G; Augenzentrum am St. Franziskus-Hospital, Hohenzollernring 74, 48145, Münster, Germany., Kellner U; Center for Rare Retinal Diseases, AugenZentrum Siegburg, Europaplatz 3, 53721, Siegburg, Germany.; RetinaScience, Postfach 301212, 53192, Bonn, Germany., Hufendiek K; Hannover Medical School, University Clinic of Ophthalmology, Carl-Neuberg-Straße 1, 30625, Hannover, Germany., Huchzermeyer C; Department of Ophthalmology, University Hospital Erlangen, Schwabachanlage 6, 91054, Erlangen, Germany., Jaegle H; Department of Ophthalmology, University Hospital Regensburg, Franz-Josef-Strauss-Allee 11, 93053, Regensburg, Germany., Ruether K; Specialist Practice Ophthalmology, Dorotheenstraße 56, 10117, Berlin, Germany., Weber BHF; Institute of Human Genetics, University of Regensburg, Franz-Josef-Strauss-Allee 11, 93053, Regensburg, Germany. bweb@klinik.uni-regensburg.de.; Institute of Clinical Human Genetics, University Hospital Regensburg, Franz-Josef-Strauss-Allee 11, 93053, Regensburg, Germany. bweb@klinik.uni-regensburg.de.
Publikováno v:
Scientific reports [Sci Rep] 2024 Oct 26; Vol. 14 (1), pp. 25529. Date of Electronic Publication: 2024 Oct 26.