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Number of items: 14.

Journal Article

Abdel-Salam, Ghada ORCID: 0000-0003-2893-8802, Thoenes, Michaela, Afifi, Hanan H., Koerber, Friederike, Swan, Daniel ORCID: 0000-0001-8978-8129 and Bolz, Hanno Joern (2014). The supposed tumor suppressor gene WWOX is mutated in an early lethal microcephaly syndrome with epilepsy, growth retardation and retinal degeneration. Orphanet J. Rare Dis., 9. LONDON: BIOMED CENTRAL LTD. ISSN 1750-1172

Abdel-Salam, Ghada M. H., Abdel-Hamid, Mohamed S., Sayed, Inas S. M., Zechner, Ulrich and Bolz, Hanno Joern (2022). OTUD6B-associated intellectual disability: novel variants and genetic exclusion of retinal degeneration as part of a refined phenotype. J. Hum. Genet., 67 (1). S. 55 - 65. LONDON: SPRINGERNATURE. ISSN 1435-232X

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, 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

Bolz, Hanno Joern (2018). Despite Challenges and Pitfalls: How Ophthalmology Benefits from the Use of Next-Generation Sequencing. Klinische Monatsblat. Augenheilkunde, 235 (3). S. 258 - 264. STUTTGART: GEORG THIEME VERLAG KG. ISSN 1439-3999

Bolz, Hanno Joern (2021). Diagnostic Analyses of Retinal Dystrophy Genes: Current Status and Perspective. Klinische Monatsblat. Augenheilkunde, 238 (3). S. 261 - 267. STUTTGART: GEORG THIEME VERLAG KG. ISSN 1439-3999

Bolz, Hanno Joern, Heller, Raoul, Thoenes, Michaela, Nuernberg, Gudrun, Nuernberg, Peter, Karnati, Srikanth, Swan, Daniel, Baumgart-Vogt, Eveline ORCID: 0000-0002-8265-3763 and Zaki, Maha (2015). PEX6 mutation causing deaf blindness with enamel dysplasia and microcephaly. Invest. Ophthalmol. Vis. Sci., 56 (7). ROCKVILLE: ASSOC RESEARCH VISION OPHTHALMOLOGY INC. ISSN 1552-5783

Bolz, Hanno Joern, Kron, Anja, Eisenberger, Tobias, Decker, Christian, Seipel, Barbara, Kraus, Cornelia, Bergmann, Carsten and Neuhaus, Christine (2014). Targeted NGS Incidentally Reveals Klinefelter Syndrome in a Patient with X-Linked Recessive Retinitis Pigmentosa and Skewed X Inactivation. Invest. Ophthalmol. Vis. Sci., 55 (13). ROCKVILLE: ASSOC RESEARCH VISION OPHTHALMOLOGY INC. ISSN 1552-5783

Eisenberger, Tobias, Di Donato, Nataliya ORCID: 0000-0001-9439-4677, Decker, Christian, Delle Vedove, Andrea, Neuhaus, Christine, Nuernberg, Gudrun, Toliat, Mohammad, Nuernberg, Peter, Muerbe, Dirk and Bolz, Hanno Joern (2018). A C-terminal nonsense mutation links PTPRQ with autosomal-dominant hearing loss, DFNA73. Genet. Med., 20 (6). S. 614 - 622. NEW YORK: NATURE PUBLISHING GROUP. ISSN 1530-0366

Issa, Peter Charbel ORCID: 0000-0002-0351-6673, Mueller, Philipp, Gliem, Martin, Mangold, Elisabeth, Bolz, Hanno Joern and Holz, Frank G. (2015). Monoallelic mutations in ABCA4 are not associated with abnormal lipofuscin accumulation. Invest. Ophthalmol. Vis. Sci., 56 (7). ROCKVILLE: ASSOC RESEARCH VISION OPHTHALMOLOGY INC. ISSN 1552-5783

Linder, Bastian ORCID: 0000-0003-1203-3136, Hirmer, Anja, Gal, Andreas, Ruether, Klaus, Bolz, Hanno Joern, Winkler, Christoph ORCID: 0000-0003-4688-6241, Laggerbauer, Bernhard and Fischer, Utz ORCID: 0000-0002-1465-6591 (2014). Identification of a PRPF4 Loss-of-Function Variant That Abrogates U4/U6.U5 Tri-snRNP Integration and Is Associated with Retinitis Pigmentosa. PLoS One, 9 (11). SAN FRANCISCO: PUBLIC LIBRARY SCIENCE. ISSN 1932-6203

Rohrschneider, Klaus and Bolz, Hanno Joern (2020). The Bardet-Biedl Syndrome - Diagnosis and Follow-up. Klinische Monatsblat. Augenheilkunde, 237 (3). S. 239 - 248. STUTTGART: GEORG THIEME VERLAG KG. ISSN 1439-3999

Thoenes, Michaela, Zimmermann, Ulrike, Ebermann, Inga, Ptok, Martin, Lewis, Morag A., Thiele, Holger, Morlot, Susanne, Hess, Markus M., Gal, Andreas, Eisenberger, Tobias, Bergmann, Carsten, Nuernberg, Gudrun, Nuernberg, Peter, Steel, Karen P., Knipper, Marlies and Bolz, Hanno Joern (2015). OSBPL2 encodes a protein of inner and outer hair cell stereocilia and is mutated in autosomal dominant hearing loss (DFNA67). Orphanet J. Rare Dis., 10. LONDON: BMC. ISSN 1750-1172

Thoenes, Michaela, Zimmermann, Ulrike, Ebermann, Inga, Ptok, Martin, Lewis, Morag A., Thiele, Holger, Morlot, Susanne, Hess, Markus M., Gal, Andreas, Eisenberger, Tobias, Bergmann, Carsten, Nuernberg, Gudrun, Nuernberg, Peter, Steel, Karen P., Knipper, Marlies and Bolz, Hanno Joern (2015). OSBPL2 encodes a protein of inner and outer hair cell stereocilia and is mutated in autosomal dominant hearing loss (DFNA67). Orphanet J. Rare Dis., 10. LONDON: BMC. ISSN 1750-1172

This list was generated on Fri Apr 26 08:02:11 2024 CEST.