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Number of items: 16.

Journal Article

Birtel, Johannes, Diederen, Roselie M., Herrmann, Philipp, Kaspar, Sophie ORCID: 0000-0002-0844-6432, Beck, Bodo B., Garrelfs, Sander F., Hoppe, Bernd and Issa, Peter Charbel (2023). The retinal phenotype in primary hyperoxaluria type 2 and 3. Pediatr. Nephrol., 38 (5). S. 1485 - 1491. NEW YORK: SPRINGER. ISSN 1432-198X

Birtel, Johannes, Eisenberger, Tobias, Gliem, Martin, Mueller, Philipp L., Herrmann, Philipp, Betz, Christian, Zahnleiter, Diana, Neuhaus, Christine, Lenzner, Steffen, Holz, Frank G., Mangold, Elisabeth, Bolz, Hanno J. and Issa, Peter Charbel ORCID: 0000-0002-0351-6673 (2018). Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy. Sci Rep, 8. LONDON: NATURE PUBLISHING GROUP. ISSN 2045-2322

Birtel, Johannes, Gliem, Martin, Hess, Kristina, Birtel, Theresa H., Holz, Frank G., Zechner, Ulrich, Bolz, Hanno J. and Herrmann, Philipp (2020). Comprehensive Geno- and Phenotyping in a Complex Pedigree Including Four Different Inherited Retinal Dystrophies. Genes, 11 (2). BASEL: MDPI. ISSN 2073-4425

Birtel, Johannes, Gliem, Martin, Hess, Kristina, Birtel, Theresa H., Holz, Frank G., Zechner, Ulrich, Bolz, Hanno J. and Herrmann, Philipp (2020). Comprehensive geno- and phenotyping in a complex pedigree including four different inherited retinal dystrophies. Invest. Ophthalmol. Vis. Sci., 61 (7). ROCKVILLE: ASSOC RESEARCH VISION OPHTHALMOLOGY INC. ISSN 1552-5783

Birtel, Johannes, Gliem, Martin, Mangold, Elisabeth, Mueller, Philipp L., Holz, Frank G., Neuhaus, Christine, Lenzner, Steffen, Zahnleiter, Diana, Betz, Christian, Eisenberger, Tobias, Bolz, Hanno J. and Issa, Peter Charbel ORCID: 0000-0002-0351-6673 (2018). Next-generation sequencing identifies unexpected genotype-phenotype correlations in patients with retinitis pigmentosa. PLoS One, 13 (12). SAN FRANCISCO: PUBLIC LIBRARY SCIENCE. ISSN 1932-6203

Birtel, Johannes, Gliem, Martin, Mangold, Elisabeth, Tebbe, Lars, Spier, Isabel, Mueller, Philipp, Holz, Frank G., Neuhaus, Christine, Wolfrum, Uwe, Bolz, Hanno J. and Issa, Peter Charbel (2017). Novel insights in KIF11-related retinopathy. Invest. Ophthalmol. Vis. Sci., 58 (8). ROCKVILLE: ASSOC RESEARCH VISION OPHTHALMOLOGY INC. ISSN 1552-5783

Birtel, Johannes, Gliem, Martin, Mangold, Elisabeth, Tebbe, Lars, Spier, Isabel, Muller, Philipp L., Holz, Frank G., Neuhaus, Christine, Wolfruni, Uwe, Bolz, Hanno J. and Issa, Peter Charbel ORCID: 0000-0002-0351-6673 (2017). Novel Insights Into the Phenotypical Spectrum of KIF11-Associated Retinopathy, Including a New Form of Retinal Ciliopathy. Invest. Ophthalmol. Vis. Sci., 58 (10). S. 3950 - 3960. ROCKVILLE: ASSOC RESEARCH VISION OPHTHALMOLOGY INC. ISSN 1552-5783

Birtel, Johannes, Gliem, Martin, Mueller, Philipp, Holz, Frank G., Neuhaus, Christine, Bolz, Hanno Joern and Issa, Peter Charbel ORCID: 0000-0002-0351-6673 (2015). Gene panel diagnosis for retinitis pigmentosa - phenotypic characteristics of unresolved cases. Invest. Ophthalmol. Vis. Sci., 56 (7). ROCKVILLE: ASSOC RESEARCH VISION OPHTHALMOLOGY INC. ISSN 1552-5783

Birtel, Johannes, Gliem, Martin, Oishi, Akio ORCID: 0000-0002-0977-9458, Mueller, Philipp L., Herrmann, Philipp, Holz, Frank G., Mangold, Elisabeth, Knapp, Michael, Bolz, Hanno J. and Issa, Peter Charbel ORCID: 0000-0002-0351-6673 (2019). Genetic testing in patients with retinitis pigmentosa: Features of unsolved cases. Clin. Exp. Ophthalmol., 47 (6). S. 779 - 787. HOBOKEN: WILEY. ISSN 1442-9071

Birtel, Johannes, Mueller, Philipp L., Gliem, Martin, Mangold, Elisabeth, Holz, Frank G., Neuhaus, Christine, Bolz, Hanno Joern and Issa, Peter Charbel ORCID: 0000-0002-0351-6673 (2016). Clinical evaluation of an intensively genotyped cohort of macular and cone/cone-rod dystrophy patients. Invest. Ophthalmol. Vis. Sci., 57 (12). ROCKVILLE: ASSOC RESEARCH VISION OPHTHALMOLOGY INC. ISSN 1552-5783

Birtel, Johannes, Spital, Georg, Book, Marius ORCID: 0000-0002-5178-8673, Habbig, Sandra, Baeumner, Soeren, Riehmer, Vera, Beck, Bodo B., Rosenkranz, David, Bolz, Hanno J., Dahmer-Heath, Mareike ORCID: 0000-0002-1667-7820, Herrmann, Philipp, Koenig, Jens and Issa, Peter Charbel (2021). NPHP1 gene-associated nephronophthisis is associated with an occult retinopathy. Kidney Int., 100 (5). S. 1092 - 1101. NEW YORK: ELSEVIER SCIENCE INC. ISSN 1523-1755

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

Issa, Peter Charbel, Gliem, Martin, Yusuf, Imran H., Birtel, Johannes, Mueller, Philipp L., Mangold, Elisabeth, Downes, Susan M., MacLaren, Robert E., Betz, Christian and Bolz, Hanno J. (2019). A Specific Macula-Predominant Retinal Phenotype Is Associated With the CDHR1 Variant c.783G > A, a Silent Mutation Leading to In-Frame Exon Skipping. Invest. Ophthalmol. Vis. Sci., 60 (10). S. 3388 - 3398. ROCKVILLE: ASSOC RESEARCH VISION OPHTHALMOLOGY INC. ISSN 1552-5783

Issa, Peter Charbel, Reuter, Peggy, Kuehlewein, Laura, Birtel, Johannes, Gliem, Martin, Tropitzsch, Anke, Whitcroft, Katherine, Bolz, Hanno, Ishihara, Kenji, MacLaren, Robert E., Downes, Susan, Oishi, Akio ORCID: 0000-0002-0977-9458, Zrenner, Eberhart, Kohl, Susanne and Hummel, Thomas (2018). Olfactory dysfunction in patients with CNGB1-related retinitis pigmentosa. Invest. Ophthalmol. Vis. Sci., 59 (9). ROCKVILLE: ASSOC RESEARCH VISION OPHTHALMOLOGY INC. ISSN 1552-5783

Issa, Peter Charbel ORCID: 0000-0002-0351-6673, Reuter, Peggy, Kuhlewein, Laura, Birtel, Johannes, Gliem, Martin, Tropitzsch, Anke, Whitcroft, Katherine L., Bolz, Hanno J., Ishihara, Kenji, MacLaren, Robert E., Downes, Susan M., Oishi, Akio ORCID: 0000-0002-0977-9458, Zrenner, Eberhart, Kohl, Susanne and Hummel, Thomas (2018). Olfactory Dysfunction in Patients With CNGB1-Associated Retinitis Pigmentosa. JAMA Ophthalmol., 136 (7). S. 761 - 770. CHICAGO: AMER MEDICAL ASSOC. ISSN 2168-6173

Yusuf, Imran H., Gliem, Martin, Birtel, Johannes, Muller, Philipp L., Mangold, Elisabeth, Bolz, Hanno and Issa, Peter Charbel (2018). The retinal phenotype associated with the frequent, synonymous c.783G > A mutation in CDHR1. Invest. Ophthalmol. Vis. Sci., 59 (9). ROCKVILLE: ASSOC RESEARCH VISION OPHTHALMOLOGY INC. ISSN 1552-5783

This list was generated on Fri Mar 29 11:59:46 2024 CET.