Universität zu Köln

Journal Article

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, 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

Fatima, Azra, Dittmann, Sven, Xu, Guoxing, Gupta, Manoj K., Linke, Matthias, Zechner, Ulrich, Nguemo, Filomain, Milting, Hendrik, Farr, Martin, Hescheler, Juergen and Saric, Tomo ORCID: 0000-0001-8344-1095 (2013). The Disease-Specific Phenotype in Cardiomyocytes Derived from Induced Pluripotent Stem Cells of Two Long QT Syndrome Type 3 Patients. PLoS One, 8 (12). SAN FRANCISCO: PUBLIC LIBRARY SCIENCE. ISSN 1932-6203

Preising, Markus N., Goerg, Boris, Friedburg, Christoph, Qvartskhava, Natalia, Budde, Birgit S., Bonus, Michele, Toliat, Mohammad R., Pfleger, Christopher, Altmueller, Janine, Herebian, Diran ORCID: 0000-0002-8528-0122, Beyer, Mila, Zoellner, Helge J., Wittsack, Hans-Joerg, Schaper, Joerg, Klee, Dirk, Zechner, Ulrich, Nuernberg, Peter, Schipper, Joerg, Schnitzler, Alfons, Gohlke, Holger, Lorenz, Birgit ORCID: 0000-0002-9737-8127, Haeussinger, Dieter and Bolz, Hanno J. (2019). Biallelic mutation of human SLC6A6 encoding the taurine transporter TAUT is linked to early retinal degeneration. Faseb J., 33 (10). S. 11507 - 11528. BETHESDA: FEDERATION AMER SOC EXP BIOL. ISSN 1530-6860

Zhang, Yongqiang, Tachtsidis, Georgios, Schob, Claudia, Koko, Mahmoud ORCID: 0000-0001-9512-0184, Hedrich, Ulrike B. S., Lerche, Holger, Lemke, Johannes R., van Haeringen, Arie, Ruivenkamp, Claudia, Prescott, Trine, Tveten, Kristian, Gerstner, Thorsten, Pruniski, Brianna, DiTroia, Stephanie, VanNoy, Grace E., Rehm, Heidi L., McLaughlin, Heather, Bolz, Hanno J., Zechner, Ulrich, Bryant, Emily, McDonough, Tiffani, Kindler, Stefan and Baehring, Robert (2021). KCND2 variants associated with global developmental delay differentially impair Kv4.2 channel gating. Hum. Mol. Genet., 30 (23). S. 2300 - 2315. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2083