Einträge von Markus, Susanne auf dem Publikationsserver

Kaya, Namik, Gieldon, Laura, Mackenroth, Luisa, Kahlert, Anne-Karin, Lemke, Johannes R., Porrmann, Joseph, Schallner, Jens, von der Hagen, Maja, Markus, Susanne, Weidensee, Sabine, Novotna, Barbara, Soerensen, Charlotte, Klink, Barbara, Wagner, Johannes, Tzschach, Andreas, Jahn, Arne, Kuhlee, Franziska, Hackmann, Karl, Schrock, Evelin, Di Donato, Nataliya und Rump, Andreas (2018) Diagnostic value of partial exome sequencing in developmental disorders. PLOS ONE 13 (8), e0201041. Volltext nicht vorhanden.

Bolze, Alexandre, Boisson, Bertrand, Bosch, Barbara, Antipenko, Alexander, Bouaziz, Matthieu, Sackstein, Paul, Chaker-Margot, Malik, Barlogis, Vincent, Briggs, Tracy, Colino, Elena, Elmore, Aurora C., Fischer, Alain, Genel, Ferah, Hewlett, Angela, Jedidi, Maher, Kelecic, Jadranka, Krüger, Renate, Ku, Cheng-Lung, Kumararatne, Dinakantha, Lefevre-Utile, Alain, Loughlin, Sam, Mahlaoui, Nizar, Markus, Susanne, Garcia, Juan-Miguel, Nizon, Mathilde, Oleastro, Matias, Pac, Malgorzata, Picard, Capucine, Pollard, Andrew J., Rodriguez-Gallego, Carlos, Thomas, Caroline, Von Bernuth, Horst, Worth, Austen, Meyts, Isabelle, Risolino, Maurizio, Selleri, Licia, Puel, Anne, Klinge, Sebastian, Abel, Laurent und Casanova, Jean-Laurent (2018) Incomplete penetrance for isolated congenital asplenia in humans with mutations in translated and untranslated RPSA exons. Proceedings of the National Academy of Sciences 115 (34), E8007-E8016. Volltext nicht vorhanden.

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. und 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), S. 531-552. Volltext nicht vorhanden.