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Jump to: 2017 | 2014
Number of items: 2.

2017

Neuhaus, Christine, Eisenberger, Tobias, Decker, Christian, Nagl, Sandra, Blank, Cornelia, Pfister, Markus, Kennerknecht, Ingo, Müller-Hofstede, Cornelie, Charbel Issa, Peter, Heller, Raoul, Beck, Bodo, Rüther, Klaus, Mitter, Diana, Rohrschneider, Klaus, Steinhauer, Ute, Korbmacher, Heike M., Huhle, Dagmar, Elsayed, Solaf M., Taha, Hesham M., Baig, Shahid M., Stöhr, 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. Molecular Genetics & Genomic Medicine 5 (5), pp. 531-552. Fulltext not available.

2014

Karlstetter, Marcus, Sorusch, Nasrin, Caramoy, Albert, Dannhausen, Katharina, Aslanidis, Alexander, Fauser, Sascha, Boesl, Michael R., Nagel-Wolfrum, Kerstin, Tamm, Ernst R. , Jägle, Herbert, Stoehr, Heidi, Wolfrum, Uwe and Langmann, Thomas (2014) Disruption of the retinitis pigmentosa 28 gene Fam161a in mice affects photoreceptor ciliary structure and leads to progressive retinal degeneration. Human Molecular Genetics 23 (19), pp. 5197-5210. Fulltext not available.

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