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Journal Article
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
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