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Number of items: 2.

Journal Article

Khan, Arif O., Nagl, Sandra, Bergmann, Carsten and Bolz, Hanno J. (2014). Limited Ocular Motility in a Child With 3q23 Microdeletion (Blepharophimosis Syndrome Plus). J. Pediatr. Ophthalmol. Strabismus., 51. S. E51 - 4. THOROFARE: SLACK INC. ISSN 1938-2405

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

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