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Journal Article
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, 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, 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
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
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
Mueller, Philipp L., Gliem, Martin, Mangold, Elisabeth, Bolz, Hanno J., Finger, Robert P., McGuinness, Myra ORCID: 0000-0002-5422-040X, Betz, Christian, Jiang, Zhichun, Weber, Bernhard H. F., MacLaren, Robert E., Holz, Frank G., Radu, Roxana A. and Issa, Peter Charbel
ORCID: 0000-0002-0351-6673
(2015).
Monoallelic ABCA4 Mutations Appear Insufficient to Cause Retinopathy: A Quantitative Autofluorescence Study.
Invest. Ophthalmol. Vis. Sci., 56 (13).
S. 8179 - 8187.
ROCKVILLE:
ASSOC RESEARCH VISION OPHTHALMOLOGY INC.
ISSN 1552-5783
Sergouniotis, Panagiotis I., McKibbin, Martin, Robson, Anthony G., Bolz, Hanno J., De Baere, Elfride ORCID: 0000-0002-5609-6895, Mueller, Philipp L., Heller, Raoul, El-Asrag, Mohammed E., Van Schil, Kristof, Plagnol, Vincent
ORCID: 0000-0002-5597-9215, Toomes, Carmel
ORCID: 0000-0001-8373-9545, Ali, Manir
ORCID: 0000-0003-3204-3788, Holder, Graham E., Issa, Peter Charbel
ORCID: 0000-0002-0351-6673, Leroy, Bart P., Inglehearn, Chris F. and Webster, Andrew R.
(2015).
Disease Expression in Autosomal Recessive Retinal Dystrophy Associated With Mutations in the DRAM2 Gene.
Invest. Ophthalmol. Vis. Sci., 56 (13).
S. 8083 - 8091.
ROCKVILLE:
ASSOC RESEARCH VISION OPHTHALMOLOGY INC.
ISSN 1552-5783