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Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 11/2009, Volume 106, Issue 46, pp. 19581 - 19586
Journal Article
by Carroll, Miles W and Matthews, David A and Hiscox, Julian A and Elmore, Michael J and Pollakis, Georgios and Rambaut, Andrew and Hewson, Roger and García-Dorival, Isabel and Bore, Joseph Akoi and Koundouno, Raymond and Abdellati, Saïd and Afrough, Babak and Aiyepada, John and Akhilomen, Patience and Asogun, Danny and Atkinson, Barry and Badusche, Marlis and Bah, Amadou and Bate, Simon and Baumann, Jan and Becker, Dirk and Becker-Ziaja, Beate and Bocquin, Anne and Borremans, Benny and Bosworth, Andrew and Boettcher, Jan Peter and Cannas, Angela and Carletti, Fabrizio and Castilletti, Concetta and Clark, Simon and Colavita, Francesca and Diederich, Sandra and Donatus, Adomeh and Duraffour, Sophie and Ehichioya, Deborah and Ellerbrok, Heinz and Fernandez-Garcia, Maria Dolores and Fizet, Alexandra and Fleischmann, Erna and Gryseels, Sophie and Hermelink, Antje and Hinzmann, Julia and Hopf-Guevara, Ute and Ighodalo, Yemisi and Jameson, Lisa and Kelterbaum, Anne and Kis, Zoltan and Kloth, Stefan and Kohl, Claudia and Korva, Miša and Kraus, Annette and Kuisma, Eeva and Kurth, Andreas and Liedigk, Britta and Logue, Christopher H and Lüdtke, Anja and Maes, Piet and McCowen, James and Mély, Stéphane and Mertens, Marc and Meschi, Silvia and Meyer, Benjamin and Michel, Janine and Molkenthin, Peter and Muñoz-Fontela, César and Muth, Doreen and Newman, Edmund N. C and Ngabo, Didier and Oestereich, Lisa and Okosun, Jennifer and Olokor, Thomas and Omiunu, Racheal and Omomoh, Emmanuel and Pallasch, Elisa and Pályi, Bernadett and Portmann, Jasmine and Pottage, Thomas and Pratt, Catherine and Priesnitz, Simone and Quartu, Serena and Rappe, Julie and Repits, Johanna and Richter, Martin and Rudolf, Martin and Sachse, Andreas and Schmidt, Kristina Maria and Schudt, Gordian and Strecker, Thomas and Thom, Ruth and Thomas, Stephen and Tobin, Ekaete and Tolley, Howard and Trautner, Jochen and Vermoesen, Tine and Vitoriano, Inês and Wagner, Matthias and Wolff, Svenja and Yue, Constanze and Capobianchi, Maria Rosaria and Kretschmer, Birte and ...
Nature, ISSN 0028-0836, 08/2015, Volume 524, Issue 7563, pp. 97 - 101
Journal Article
Clinical Chemistry, ISSN 0009-9147, 02/2007, Volume 53, Issue 2, pp. 273 - 283
Journal Article
Journal Article
Scientific Reports, ISSN 2045-2322, 12/2018, Volume 8, Issue 1, pp. 5665 - 11
Multimodal imaging provides insights into phenotype and disease progression in inherited retinal disorders. Congenital achromatopsia (ACHM), a cone dysfunction... 
ALPHA-SUBUNIT | OPTICAL COHERENCE TOMOGRAPHY | QUANTITATIVE FUNDUS AUTOFLUORESCENCE | MULTIDISCIPLINARY SCIENCES | IN-VIVO | MACULAR DEGENERATION | MUTATIONS | RETINITIS-PIGMENTOSA | OCULAR MELANIN | RECESSIVE STARGARDT DISEASE | RETINAL-PIGMENT EPITHELIUM | Eye | Phenotypes | Medical imaging | Acetylcholine receptors | Biomarkers | Retina | I.R. radiation | Wavelength
Journal Article
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 12/2018, Volume 128, Issue 12, pp. 5663 - 5675
Journal Article
Investigative Ophthalmology and Visual Science, ISSN 0146-0404, 06/2018, Volume 59, Issue 7, pp. 3041 - 3052
PURPOSE. Mutations in the retinitis pigmentosa-1-like-1 (RP1L1) gene are the major cause of autosomal dominant occult macular dystrophy (OCMD), while recessive... 
RP1L1 gene | Retinitis pigmentosa | Occult macular dystrophy | PROTEIN | VARIANTS | OCULOCUTANEOUS ALBINISM | GENOTYPE | P-GENE | FAMILY | MULTIFOCAL ELECTRORETINOGRAPHY | occult macular dystrophy | retinitis pigmentosa | OPHTHALMOLOGY | MFERG | RETINITIS-PIGMENTOSA | Index Medicus
Journal Article
Journal Article