Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia

Solaki, Maria (författare)

Centre for Ophthalmology, Institute for Ophthalmic Research, University of Tübingen, Tübingen, Germany

Baumann, Britta (författare)

Centre for Ophthalmology, Institute for Ophthalmic Research, University of Tübingen, Tübingen, Germany

Reuter, Peggy (författare)

Centre for Ophthalmology, Institute for Ophthalmic Research, University of Tübingen, Tübingen, Germany

visa fler...

Andreasson, Sten (författare)

Department of Ophthalmology, University Hospital Lund, Lund, Sweden

Audo, Isabelle (författare)

Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France; CHNO des Quinze-Vingts, Centre de Référence Maladies Rares REFERET, and INSERM-DGOS CIC1423, Paris, France

Ayuso, Carmen (författare)

Department of Genetics & Genomics, Instituto de Investigación Sanitaria - Fundación Jiménez Díaz University Hospital - Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain; Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain

Balousha, Ghassan (författare)

Department of Pathology and Histology, Faculty of Medicine, Al-Quds University, Eastern Jerusalem, Palestine

Benedicenti, Francesco (författare)

Clinical Genetics Service and South Tyrol Coordination Center for Rare Diseases, Department of Pediatrics, Regional Hospital of Bolzano, Bolzano, Italy

Birch, David (författare)

Retina Foundation of the Southwest, TX, Dallas, United States

Bitoun, Pierre (författare)

Genetique Medicale, CHU Paris Nord, Hopital Jean Verdier, Bondy Cedex, France

Blain, Delphine (författare)

National Eye Institute/NEI, MD, Bethesda, United States

Bocquet, Beatrice (författare)

National Reference Centre for Inherited Sensory Diseases, Institute for Neurosciences of Montpellier (INM), University of Montpellier, INSERM, Montpellier, France

Branham, Kari (författare)

Department of Ophthalmology and Visual Sciences, Kellogg Eye Center, University of Michigan, MI, Ann Arbor, United States

Català-Mora, Jaume (författare)

Unitat de Distròfies Hereditàries de Retina Hospital Sant Joan de Déu, Esplugues de Llobregat, Barcelona, Spain

De Baere, Elfride (författare)

Department of Biomolecular Medicine, Center for Medical Genetics, Ghent University and Ghent University Hospital, Ghent, Belgium

Dollfus, Helene (författare)

CARGO, Hôpitaux Universitaires de Strasbourg, Strasbourg, France; U-1112, Inserm, Faculté de Médecine, Université de Strasbourg, Strasbourg, France

Falana, Mohammed (författare)

Department of Pathology and Histology, Faculty of Medicine, Al-Quds University, Eastern Jerusalem, Palestine

Giorda, Roberto (författare)

Molecular Biology Laboratory, Scientific Institute IRCCS E. Medea, Lecco, Bosisio Parini, Italy

Golovleva, Irina (författare)

Umeå universitet,Medicinsk och klinisk genetik

Gottlob, Irene (författare)

The University of Leicester Ulverscroft Eye Unit, Leicester Royal Infirmary, Leicester, United Kingdom

Heckenlively, John R. (författare)

Department of Ophthalmology and Visual Sciences, Kellogg Eye Center, University of Michigan, MI, Ann Arbor, United States

Jacobson, Samuel G. (författare)

Department of Ophthalmology, Perelman School of Medicine, Scheie Eye Institute, University of Pennsylvania, PA, Philadelphia, United States

Jones, Kaylie (författare)

Retina Foundation of the Southwest, TX, Dallas, United States

Jägle, Herbert (författare)

Department of Ophthalmology, University of Regensburg, Regensburg, Germany

Janecke, Andreas R. (författare)

Institute of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria

Kellner, Ulrich (författare)

Zentrum für Seltene Netzhauterkrankungen, AugenZentrum Siegburg, MVZ Augenärztliches Diagnostik- und Therapiecentrum Siegburg GmbH, Siegburg, Germany; RetinaScience, Bonn, Germany

Liskova, Petra (författare)

Department of Paediatrics and Inherited Metabolic Disorders, 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

Lorenz, Birgit (författare)

Department of Ophthalmology, Justus-Liebig University Giessen, Giessen, Germany; Department of Ophthalmology, Universitaetsklinikum Bonn, Bonn, Germany

Martorell-Sampol, Loreto (författare)

Genetica Molecular-Edifici Docent, Hospital Sant Joan de Deu, Esplugues-Barcelona, Spain

Messias, André (författare)

Department of Ophthalmology, Otorhinolaryngology, and Head and Neck Surgery, School of Medicine of Ribeirão Preto, University of São Paulo, Ribeirão Preto, Brazil

Meunier, Isabelle (författare)

National Reference Centre for Inherited Sensory Diseases, Montpellier University Hospital, University of Montpellier, Montpellier, France; Sensgene Care Network, France

Belga Ottoni Porto, Fernanda (författare)

INRET Clínica e Centro de Pesquisa, IEP Santa Casa Belo Horizonte, MG, Belo Horizonte, Brazil

Papageorgiou, Eleni (författare)

Department of Ophthalmology, University Hospital of Larissa, Larissa, Mezourlo, Greece

Plomp, Astrid S. (författare)

Department of Human Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, Netherlands

de Ravel, Thomy J. L. (författare)

Centre for Medical Genetics, University Hospital Brussels, Brussels, Belgium

Reiff, Charlotte M. (författare)

Augenarztpraxis am Stadttheater, Freiburg, Germany

Renner, Agnes B. (författare)

Augenarztpraxis Regensburg, Regensburg, Germany

Rosenberg, Thomas (författare)

Department of Ophthalmology, National Eye Clinic, Glostrup Hospital, Glostrup, Denmark

Rudolph, Günther (författare)

University Eye Hospital, Ludwig Maximilians University, Munich, Germany

Salati, Roberto (författare)

Scientific Institute, IRCCS Eugenio Medea, Pediatric Ophthalmology Unit, Lecco, Bosisio Parini, Italy

Sener, E. Cumhur (författare)

Strabismus and Pediatric Ophthalmology, Private Practice, Ankara, Turkey

Sieving, Paul A. (författare)

Center for Ocular Regenerative Therapy, School of Medicine, University of California Davis, Sacramento, United States

Stanzial, Franco (författare)

Clinical Genetics Service and South Tyrol Coordination Center for Rare Diseases, Department of Pediatrics, Regional Hospital of Bolzano, Bolzano, Italy

Traboulsi, Elias I. (författare)

Center for Genetic Eye Diseases, Cole Eye Institute, Cleveland Clinic Foundation, OH, Cleveland, United States

Tsang, Stephen H. (författare)

Department of Ophthalmology, Pathology and Cell Biology, College of Physicians and Surgeons, Columbia Stem Cell Initiative, Columbia University, NY, New York City, United States

Varsanyi, Balázs (författare)

Department of Ophthalmology, Medical School, University of Pécs and Ganglion Medical Center, Pécs, Pécs, Hungary

Weleber, Richard G. (författare)

Oregon Health & Science University, Ophthalmic Genetics Service of the Casey Eye Institute, 515 SW Campus Drive, OR, Portland, United States

Zobor, Ditta (författare)

Centre for Ophthalmology, Institute for Ophthalmic Research, University Hospital Tübingen, Tübingen, Germany; Department of Ophthalmology, Semmelweis University Budapest, Budapest, Hungary

Stingl, Katarina (författare)

Center for Ophthalmology, University Eye Hospital, University of Tübingen, Tübingen, Germany; Center for Rare Eye Diseases, University of Tübingen, Tübingen, Germany

Wissinger, Bernd (författare)

Centre for Ophthalmology, Institute for Ophthalmic Research, University of Tübingen, Tübingen, Germany

Kohl, Susanne (författare)

Centre for Ophthalmology, Institute for Ophthalmic Research, University of Tübingen, Tübingen, Germany

visa färre...

 (creator_code:org_t)

2022-04-14

2022

Engelska.

Ingår i: Human Mutation. - : John Wiley & Sons. - 1059-7794 .- 1098-1004. ; 43:7, s. 832-858

Relaterad länk:

https://doi.org/10.1...

visa fler...

https://umu.diva-por... (primary) (Raw object)

https://urn.kb.se/re...

https://doi.org/10.1...

visa färre...

• Tidskriftsartikel (refereegranskat)