Zobrazeno 1 - 10
of 1 502
pro vyhledávání: '"Stöhr H"'
Autor:
Treiber, M.C., Grünberger, J., Vyssoki, B., Szeles, J.C., Kaniusas, E., Kampusch, S., Stöhr, H., Walter, H., Lesch, O.M., König, D., Kraus, C.
Publikováno v:
In Alcohol February 2024 114:61-68
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.
Autor:
Sterr, U., Degenhardt, C., Stoehr, H., Lisdat, Ch., Schnatz, H., Helmcke, J., Riehle, F., Wilpers, G., Oates, Ch., Hollberg, L.
We describe the current status of the Ca optical frequency standards with laser-cooled neutral atoms realized in two different laboratories for the purpose of developing a possible future optical atomic clock. Frequency measurements performed at the
Externí odkaz:
http://arxiv.org/abs/physics/0411094
Autor:
Hitti-Malin RJ; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands., Panneman DM; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands., Corradi Z; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands., Boonen EGM; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands., Astuti G; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands., Dhaenens CM; Univ. Lille, Inserm, CHU Lille, U1172-LilNCog-Lille Neuroscience & Cognition, F-59000 Lille, France., Stöhr H; Institute of Human Genetics, University of Regensburg, 93053 Regensburg, Germany., Weber BHF; Institute of Human Genetics, University of Regensburg, 93053 Regensburg, Germany.; Institute of Clinical Human Genetics, University Hospital Regensburg, 93053 Regensburg, Germany., Sharon D; Department of Ophthalmology, Hadassah Medical Center, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem 91120, Israel., Banin E; Department of Ophthalmology, Hadassah Medical Center, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem 91120, Israel., Karali M; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', 80138 Naples, Italy.; Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, University of Campania 'Luigi Vanvitelli', 80131 Naples, Italy., Banfi S; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', 80138 Naples, Italy.; Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, University of Campania 'Luigi Vanvitelli', 80131 Naples, Italy.; Telethon Institute of Genetics and Medicine (TIGEM), 80078 Pozzuoli, Italy., Ben-Yosef T; Ruth and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa 31096, Israel., Glavač D; Department of Molecular Genetics, Institute of Pathology, Faculty of Medicine, University of Ljubljana, 1000 Ljubljana, Slovenia.; Center for Human Genetics and Pharmacogenomics, Faculty of Medicine, University of Maribor, 2000 Maribor, Slovenia., Farrar GJ; The School of Genetics and Microbiology, The University of Dublin Trinity College, D02 VF25 Dublin, Ireland., Ayuso C; Department of Genetics, Health Research Institute-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), 28049 Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain., Liskova P; Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, 128 08 Prague, Czech Republic.; Department of Ophthalmology, First Faculty of Medicine, Charles University and General University Hospital in Prague, 128 08 Prague, Czech Republic., Dudakova L; Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, 128 08 Prague, Czech Republic., Vajter M; Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, 128 08 Prague, Czech Republic.; Department of Ophthalmology, First Faculty of Medicine, Charles University and General University Hospital in Prague, 128 08 Prague, Czech Republic., Ołdak M; Department of Histology and Embryology, Medical University of Warsaw, 02-004 Warsaw, Poland., Szaflik JP; Department of Ophthalmology, Medical University of Warsaw, SPKSO Ophthalmic University Hospital, 03-709 Warsaw, Poland., Matynia A; College of Optometry, University of Houston, Houston, TX 77004, USA.; Jules Stein Eye Institute, Los Angeles, CA 90095, USA.; Ophthalmology, University of California Los Angeles David Geffen School of Medicine, Los Angeles, CA 90095, USA., Gorin MB; Jules Stein Eye Institute, Los Angeles, CA 90095, USA., Kämpjärvi K; Blueprint Genetics, 02150 Espoo, Finland., Bauwens M; Department of Biomolecular Medicine, Ghent University, 9000 Ghent, Belgium.; Center for Medical Genetics, Ghent University Hospital, 9000 Ghent, Belgium., De Baere E; Department of Biomolecular Medicine, Ghent University, 9000 Ghent, Belgium.; Center for Medical Genetics, Ghent University Hospital, 9000 Ghent, Belgium., Hoyng CB; Department of Ophthalmology, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands., Li CHZ; Department of Ophthalmology, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands., Klaver CCW; Department of Ophthalmology, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands., Inglehearn CF; Division of Molecular Medicine, Leeds Institute of Medical Research, St. James's University Hospital, University of Leeds, Leeds LS9 7TF, UK., Fujinami K; Department of Ophthalmology, The Jikei University School of Medicine, Tokyo 105-8461, Japan., Rivolta C; Institute of Molecular and Clinical Ophthalmology Basel, 4031 Basel, Switzerland., Allikmets R; Department of Ophthalmology, Columbia University, New York, NY 10027, USA.; Department of Pathology & Cell Biology, Columbia University, New York, NY 10027, USA., Zernant J; Department of Ophthalmology, Columbia University, New York, NY 10027, USA., Lee W; Department of Ophthalmology, Columbia University, New York, NY 10027, USA., Podhajcer OL; Laboratorio de Terapia Molecular y Celular (Genocan), Fundación Instituto Leloir, CONICET, Buenos Aires 1405, Argentina., Fakin A; Eye Hospital, University Medical Centre Ljubljana, 1000 Ljubljana, Slovenia.; Faculty of Medicine, University of Ljubljana, 1000 Ljubljana, Slovenia., Sajovic J; Eye Hospital, University Medical Centre Ljubljana, 1000 Ljubljana, Slovenia.; Faculty of Medicine, University of Ljubljana, 1000 Ljubljana, Slovenia., AlTalbishi A; St John of Jerusalem Eye Hospital Group, East Jerusalem 91198, Palestine., Valeina S; Department of Ophthalmology, Riga Stradins University, LV-1007 Riga, Latvia.; Children's Clinical University Hospital, LV-1004 Riga, Latvia., Taurina G; Children's Clinical University Hospital, LV-1004 Riga, Latvia., Vincent AL; Department of Ophthalmology, New Zealand National Eye Centre, Faculty of Medical and Health Sciences, The University of Auckland, Grafton, Auckland 1023, New Zealand.; Eye Department, Greenlane Clinical Centre, Auckland District Health Board, Auckland 1142, New Zealand., Roberts L; University of Cape Town/MRC Precision and Genomic Medicine Research Unit, Division of Human Genetics, Department of Pathology, Institute of Infectious Disease and Molecular Medicine (IDM), Faculty of Health Sciences, University of Cape Town, Cape Town 7925, South Africa., Ramesar R; University of Cape Town/MRC Precision and Genomic Medicine Research Unit, Division of Human Genetics, Department of Pathology, Institute of Infectious Disease and Molecular Medicine (IDM), Faculty of Health Sciences, University of Cape Town, Cape Town 7925, South Africa., Sartor G; Department of Pharmacy and Biotechnology, University of Bologna, 40127 Bologna, Italy., Luppi E; Department of Medical and Surgical Sciences, University of Bologna, 40127 Bologna, Italy.; Unit of Medical Genetics, IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138 Bologna, Italy., Downes SM; Nuffield Laboratory of Ophthalmology, Nuffield Department of Clinical Neurosciences, Oxford University, Oxford OX3 9DU, UK.; Oxford Eye Hospital, Oxford University NHS Foundation Trust, Oxford OX3 9DU, UK., van den Born LI; The Rotterdam Eye Hospital, 3011 BH Rotterdam, The Netherlands., McLaren TL; Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Nedlands, WA 6009, Australia.; Centre for Ophthalmology and Visual Science, The University of Western Australia, Nedlands, WA 6009, Australia., De Roach JN; Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Nedlands, WA 6009, Australia.; Centre for Ophthalmology and Visual Science, The University of Western Australia, Nedlands, WA 6009, Australia., Lamey TM; Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Nedlands, WA 6009, Australia.; Centre for Ophthalmology and Visual Science, The University of Western Australia, Nedlands, WA 6009, Australia., Thompson JA; Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Nedlands, WA 6009, Australia., Chen FK; Centre for Ophthalmology and Visual Science, The University of Western Australia, Nedlands, WA 6009, Australia., Tracewska AM; Datana Solutions, 54-530 Wroclaw, Poland., Kamakari S; Ophthalmic Genetics Unit, OMMA Ophthalmological Institute of Athens, 115 25 Athens, Greece., Sallum JMF; Department of Ophthalmology and Visual Sciences, Universidade Federal de São Paulo, São Paulo 04023-062, SP, Brazil.; Instituto de Genética Ocular, São Paulo 04552-050, SP, Brazil., Bolz HJ; Institute of Human Genetics, University Hospital of Cologne, 50937 Cologne, Germany., Kayserili H; Department of Medical Genetics, Koc University School of Medicine (KUSOM), 34450 Istanbul, Turkey., Roosing S; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands., Cremers FPM; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands.
Publikováno v:
Biomolecules [Biomolecules] 2024 Mar 19; Vol. 14 (3). Date of Electronic Publication: 2024 Mar 19.
Autor:
Cardon I; Department of Psychiatry and Psychotherapy, University of Regensburg, 93053 Regensburg, Germany., Grobecker S; Department of Psychiatry and Psychotherapy, University of Regensburg, 93053 Regensburg, Germany., Kücükoktay S; Department of Psychiatry and Psychotherapy, University of Regensburg, 93053 Regensburg, Germany., Bader S; Department of Psychiatry and Psychotherapy, University of Regensburg, 93053 Regensburg, Germany., Jahner T; Department of Psychiatry and Psychotherapy, University of Regensburg, 93053 Regensburg, Germany., Nothdurfter C; Department of Psychiatry and Psychotherapy, University of Regensburg, 93053 Regensburg, Germany., Koschitzki K; Department of Dermatology, Regensburg University Hospital, 93053 Regensburg, Germany., Berneburg M; Department of Dermatology, Regensburg University Hospital, 93053 Regensburg, Germany., Weber BHF; Institute of Human Genetics, University of Regensburg, 93053 Regensburg, Germany.; Institute of Clinical Human Genetics, Regensburg University Hospital, 93053 Regensburg, Germany., Stöhr H; Institute of Human Genetics, University of Regensburg, 93053 Regensburg, Germany., Höring M; Institute of Clinical Chemistry and Laboratory Medicine, Regensburg University Hospital, 93053 Regensburg, Germany., Liebisch G; Institute of Clinical Chemistry and Laboratory Medicine, Regensburg University Hospital, 93053 Regensburg, Germany., Braun F; Department of Neuropathology, Regensburg University Hospital, 93053 Regensburg, Germany., Rothammer-Hampl T; Department of Neuropathology, Regensburg University Hospital, 93053 Regensburg, Germany., Riemenschneider MJ; Department of Neuropathology, Regensburg University Hospital, 93053 Regensburg, Germany., Rupprecht R; Department of Psychiatry and Psychotherapy, University of Regensburg, 93053 Regensburg, Germany., Milenkovic VM; Department of Psychiatry and Psychotherapy, University of Regensburg, 93053 Regensburg, Germany., Wetzel CH; Department of Psychiatry and Psychotherapy, University of Regensburg, 93053 Regensburg, Germany.
Publikováno v:
International journal of molecular sciences [Int J Mol Sci] 2024 Jan 12; Vol. 25 (2). Date of Electronic Publication: 2024 Jan 12.
Autor:
Corradi Z; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands. Electronic address: zelia.corradi@radboudumc.nl., Khan M; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands; Max Planck Institute for Psycholinguistics, Nijmegen, the Netherlands., Hitti-Malin R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Mishra K; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Whelan L; The School of Genetics & Microbiology, Trinity College Dublin, Dublin, Ireland., Cornelis SS; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Hoyng CB; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, the Netherlands., Kämpjärvi K; Blueprint Genetics, Espoo, Finland., Klaver CCW; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, the Netherlands; Department of Epidemiology, Erasmus Medical Center, Rotterdam, the Netherlands; Department of Ophthalmology, Erasmus Medical Center, Rotterdam, the Netherlands; Institute of Molecular & Clinical Ophthalmology, Basel, Switzerland., Liskova P; Research Unit for Rare Diseases, Department of Paediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic; Department of Ophthalmology, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic., Stöhr H; Institute of Human Genetics, University of Regensburg, Regensburg, Germany., Weber BHF; Institute of Human Genetics, University of Regensburg, Regensburg, Germany; Institute of Clinical Human Genetics, University Hospital Regensburg, Regensburg, Germany., Banfi S; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli,' Naples and Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy., Farrar GJ; The School of Genetics & Microbiology, Trinity College Dublin, Dublin, Ireland., Sharon D; Department of Ophthalmology, Hadassah Medical Center, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem, Israel., Zernant J; Department of Ophthalmology, Columbia University, New York, NY, USA., Allikmets R; Department of Ophthalmology, Columbia University, New York, NY, USA; Department of Pathology & Cell Biology, Columbia University, New York, NY, USA., Dhaenens CM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands; University Lille, Inserm, CHU Lille, U1172 - LilNCog - Lille Neuroscience & Cognition, 59000 Lille, France., Cremers FPM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.
Publikováno v:
HGG advances [HGG Adv] 2023 Oct 12; Vol. 4 (4), pp. 100237. Date of Electronic Publication: 2023 Sep 12.
Autor:
Nuzhat N; Department of Cell and Developmental Biology, University of Michigan, Ann Arbor, Michigan, USA., Van Schil K; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium., Liakopoulos S; Cologne Image Reading Center, Department of Ophthalmology, University Hospital of Cologne, Cologne, Germany.; Department of Ophthalmology, Goethe University, Frankfurt, Germany., Bauwens M; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium., Rey AD; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium., Käseberg S; Institute of Human Genetics, University Medical Center Mainz, Mainz, Germany., Jäger M; Department of Ophthalmology, Justus-Liebig-University Giessen, Giessen, Germany.; Augenarztpraxis Bad Brückenau, Bad Brückenau, Germany., Willer JR; Department of Ophthalmology and., Winter J; Institute of Human Genetics, University Medical Center Mainz, Mainz, Germany., Truong HM; Cell and Molecular Biology Program, University of Michigan, Ann Arbor, Michigan, USA., Gruartmoner N; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium., Van Heetvelde M; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium., Wolf J; Department of Radiology and., Merget R; Department of Radiology and., Grasshoff-Derr S; Department of Pediatric Surgery, Bürgerhospital, Frankfurt am Main, Germany., Van Dorpe J; Department of Diagnostic Sciences, Ghent University, Ghent, Belgium.; Department of Pathology, Ghent University Hospital, Ghent, Belgium., Hoorens A; Department of Diagnostic Sciences, Ghent University, Ghent, Belgium.; Department of Pathology, Ghent University Hospital, Ghent, Belgium., Stöhr H; Institute of Human Genetics, University of Regensburg, Regensburg, Germany., Mansard L; Laboratoire de Génétique Moléculaire, CHU de Montpellier, Université de Montpellier, Montpellier, France., Roux AF; Laboratoire de Génétique Moléculaire, CHU de Montpellier, Université de Montpellier, Montpellier, France., Langmann T; Laboratory for Experimental Immunology of the Eye, Department of Ophthalmology, Faculty of Medicine and University Hospital Cologne, Cologne, Germany., Dannhausen K; Laboratory for Experimental Immunology of the Eye, Department of Ophthalmology, Faculty of Medicine and University Hospital Cologne, Cologne, Germany., Rosenkranz D; Senckenberg Centre for Human Genetics, Frankfurt am Main, Germany., Wissing KM; Department of Nephrology and., Van Lint M; Department of Ophthalmology, Brussels University Hospital, Jette, Belgium., Rossmann H; Institute of Clinical Chemistry and Laboratory Medicine, University Medical Center Mainz, Mainz, Germany., Häuser F; Institute of Clinical Chemistry and Laboratory Medicine, University Medical Center Mainz, Mainz, Germany., Nürnberg P; Cologne Center for Genomics (CCG), University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany.; Center for Molecular Medicine Cologne, University of Cologne, Cologne, Germany., Thiele H; Cologne Center for Genomics (CCG), University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany., Zechner U; Institute of Human Genetics, University Medical Center Mainz, Mainz, Germany.; Senckenberg Centre for Human Genetics, Frankfurt am Main, Germany., Pearring JN; Department of Cell and Developmental Biology, University of Michigan, Ann Arbor, Michigan, USA.; Department of Ophthalmology and.; Cell and Molecular Biology Program, University of Michigan, Ann Arbor, Michigan, USA., De Baere E; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium., Bolz HJ; Senckenberg Centre for Human Genetics, Frankfurt am Main, Germany.; Institute of Human Genetics, University Hospital of Cologne, Cologne, Germany.
Publikováno v:
The Journal of clinical investigation [J Clin Invest] 2023 Apr 17; Vol. 133 (8). Date of Electronic Publication: 2023 Apr 17.
Autor:
Gersch J; University Eye Hospital, Hannover Medical School, 30625 Hannover, Germany., Hufendiek K; University Eye Hospital, Hannover Medical School, 30625 Hannover, Germany., Delarocque J; Clinic for Horses, University Veterinary Medicine Hannover, Foundation, 30559 Hannover, Germany., Framme C; University Eye Hospital, Hannover Medical School, 30625 Hannover, Germany., Jacobsen C; University Eye Hospital, Hannover Medical School, 30625 Hannover, Germany., Stöhr H; Institute of Human Genetics, University of Regensburg, Franz-Josef-Strauss-Allee 11, 93053 Regensburg, Germany., Kellner U; Center for Rare Retinal Diseases, AugenZentrum Siegburg, MVZ Augenärztliches Diagnostik- und Therapiecentrum Siegburg GmbH, Europaplatz 3, 53721 Siegburg, Germany.; RetinaScience, P.O. Box 301212, 53192 Bonn, Germany., Hufendiek K; University Eye Hospital, Hannover Medical School, 30625 Hannover, Germany.
Publikováno v:
International journal of molecular sciences [Int J Mol Sci] 2022 Dec 16; Vol. 23 (24). Date of Electronic Publication: 2022 Dec 16.
Autor:
Rating, P, Stöhr, H, Neuhaus, C, Schaperdoth-Gerlings, B, Freimuth, MA, Bornfeld, N, Bechrakis, N
Publikováno v:
181. Versammlung des Vereins Rheinisch-Westfälischer Augenärzte; 20190125-20190126; Aachen; DOC19rwa072 /20190212/
Hintergrund: Die Kongenitale stationäre Nachtblindheit (CSNB) ist eine genetisch heterogene hereditäre Retinopathie mit Stäbchenfunktionsstörung. Die Diagnostik zur Klassifikation ihrer Subtypen und des Erbganges erfolgt anamnestisch, klinisch, e
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2617e4811ff7aadcda300945c6c88bf1
Publikováno v:
181. Versammlung des Vereins Rheinisch-Westfälischer Augenärzte; 20190125-20190126; Aachen; DOC19rwa076 /20190212/
Hintergrund: Evaluierung der molekulargenetischen Befunde von 408 Patienten mit gesicherter molekulargenetischer Ursache einer hereditären Netzhautdystrophien (HND) aus einem deutschen Referenzzentrum. Methoden: Nach der ophthalmologischen Diagnose
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::30cced172a265efcb7014ae23b7d0b65