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2023
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
2021
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
2020
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
2019
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
2018
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