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2022
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
2021
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
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
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
2013
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