Universität zu Köln

Journal Article

Brandl, Caroline ORCID: 0000-0001-8223-6137, Schulz, Heidi L., Issa, Peter Charbel ORCID: 0000-0002-0351-6673, Birtel, Johannes, Bergholz, Richard, Lange, Clemens, Dahlke, Claudia, Zobor, Ditta, Weber, Bernhard H. F. and Stoehr, Heidi (2017). Mutations in the Genes for Interphotoreceptor Matrix Proteoglycans, IMPG1 and IMPG2, in Patients with Vitelliform Macular Lesions. Genes, 8 (7). BASEL: MDPI. ISSN 2073-4425

Gliem, Martin, Mueller, Philipp L., Mangold, Elisabeth, Bolz, Hanno J., Stoehr, Heidi, Weber, Bernhard H. F., Holz, Frank G. and Issa, Peter Charbel ORCID: 0000-0002-0351-6673 (2015). Reticular Pseudodrusen in Sorsby Fundus Dystrophy. Ophthalmology, 122 (8). S. 1555 - 1563. NEW YORK: ELSEVIER SCIENCE INC. ISSN 1549-4713

Gliem, Martin, Mueller, Philipp L., Mangold, Elisabeth, Holz, Frank G., Bolz, Hanno J., Stoehr, Heidi, Weber, Bernhard H. F. and Issa, Peter Charbel ORCID: 0000-0002-0351-6673 (2015). Sorsby Fundus Dystrophy: Novel Mutations, Novel Phenotypic Characteristics, and Treatment Outcome. Invest. Ophthalmol. Vis. Sci., 56 (4). S. 2664 - 2677. ROCKVILLE: ASSOC RESEARCH VISION OPHTHALMOLOGY INC. ISSN 1552-5783

Gliem, Martin, Mueller, Philipp L., Mangold, Elisabeth, Holz, Frank G., Bolz, Hanno J., Stoehr, Heidi, Weber, Bernhard H. F. and Issa, Peter Charbel ORCID: 0000-0002-0351-6673 (2015). Sorsby Fundus Dystrophy: Novel Mutations, Novel Phenotypic Characteristics, and Treatment Outcome. Invest. Ophthalmol. Vis. Sci., 56 (4). S. 2664 - 2677. ROCKVILLE: ASSOC RESEARCH VISION OPHTHALMOLOGY INC. ISSN 1552-5783

Karlstetter, Marcus, Sorusch, Nasrin, Caramoy, Albert, Dannhausen, Katharina, Aslanidis, Alexander, Fauser, Sascha, Boesl, Michael R., Nagel-Wolfrum, Kerstin, Tamm, Ernst R., Jaegle, Herbert, Stoehr, Heidi, Wolfrum, Uwe and Langmann, Thomas (2014). Disruption of the retinitis pigmentosa 28 gene Fam161a in mice affects photoreceptor ciliary structure and leads to progressive retinal degeneration. Hum. Mol. Genet., 23 (19). S. 5197 - 5211. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2083

Neuhaus, Christine, Eisenberger, Tobias, Decker, Christian, Nagl, Sandra, Blank, Cornelia, Pfister, Markus, Kennerknecht, Ingo, Mueller-Hofstede, Cornelie, Issa, Peter Charbel ORCID: 0000-0002-0351-6673, Heller, Raoul, Beck, Bodo, Ruether, Klaus, Mitter, Diana, Rohrschneider, Klaus, Steinhauer, Ute, Korbmacher, Heike M., Huhle, Dagmar, Elsayed, Solaf M., Taha, Hesham M., Baig, Shahid M., Stoehr, Heidi, Preising, Markus, Markus, Susanne, Moeller, Fabian, Lorenz, Birgit, Nagel-Wolfrum, Kerstin, Khan, Arif O. and Bolz, Hanno J. (2017). Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and PEX26 mutated in Heimler syndrome. Mol. Genet. Genom. Med., 5 (5). S. 531 - 553. HOBOKEN: WILEY. ISSN 2324-9269

Zach, Frank ORCID: 0000-0003-1168-8106, Grassmann, Felix ORCID: 0000-0003-1390-7528, Langmann, Thomas, Sorusch, Nasrin, Wolfrum, Uwe and Stoehr, Heidi (2012). The retinitis pigmentosa 28 protein FAM161A is a novel ciliary protein involved in intermolecular protein interaction and microtubule association. Hum. Mol. Genet., 21 (21). S. 4573 - 4587. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2083