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Number of items: 6.

Journal Article

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, Baig, Shahid M., Neuhaus, Christine, Beyer, Anke, Decker, Eva, Muerbe, Dirk, Decker, Christian, Bergmann, Carsten and Bolz, Hanno J. (2014). Targeted and Genomewide NGS Data Disqualify Mutations in MYO1A, the DFNA48 Gene, as a Cause of Deafness. Hum. Mutat., 35 (5). S. 565 - 571. HOBOKEN: WILEY. ISSN 1098-1004

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

Eisenberger, Tobias, Neuhaus, Christine, Khan, Arif O., Decker, Christian, Preising, Markus N., Friedburg, Christoph, Bieg, Anika, Gliem, Martin, Issa, Peter Charbel ORCID: 0000-0002-0351-6673, Holz, Frank G., Baig, Shahid M., Hellenbroich, Yorck, Galvez, Alberto, Platzer, Konrad ORCID: 0000-0001-6127-6308, Wollnik, Bernd, Laddach, Nadja, Ghaffari, Saeed Reza, Rafati, Maryam, Botzenhart, Elke, Tinschert, Sigrid, Boerger, Doris, Bohring, Axel, Schreml, Julia, Koertge-Jung, Stefani, Schell-Apacik, Chayim, Bakur, Khadijah ORCID: 0000-0002-0668-1762, Al-Aama, Jumana Y., Neuhann, Teresa, Herkenrath, Peter, Nuernberg, Gudrun, Nuernburg, Peter, Davis, John S., Gal, Andreas, Bergmann, Carsten, Lorenz, Birgit and Bolz, Hanno J. (2013). Increasing the Yield in Targeted Next-Generation Sequencing by Implicating CNV Analysis, Non-Coding Exons and the Overall Variant Load: The Example of Retinal Dystrophies. PLoS One, 8 (11). SAN FRANCISCO: PUBLIC LIBRARY SCIENCE. ISSN 1932-6203

Fehrenbach, Henry, Decker, Christian, Eisenberger, Tobias, Frank, Valeska, Hampel, Tobias, Walden, Ulrike, Amann, Kerstin U., Krueger-Stollfuss, Ingrid, Bolz, Hanno J., Haeffner, Karsten, Pohl, Martin and Bergmann, Carsten (2014). Mutations in WDR19 encoding the intraflagellar transport component IFT144 cause a broad spectrum of ciliopathies. Pediatr. Nephrol., 29 (8). S. 1451 - 1457. NEW YORK: SPRINGER. ISSN 1432-198X

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

This list was generated on Thu Mar 28 13:18:13 2024 CET.