Einträge von Bauer, Peter auf dem Publikationsserver

Sepahi, Ilnaz, Faust, Ulrike, Sturm, Marc, Bosse, Kristin, Kehrer, Martin, Heinrich, Tilman, Grundman-Hauser, Kathrin, Bauer, Peter, Ossowski, Stephan, Susak, Hana , Varon, Raymonda, Schröck, Evelin, Niederacher, Dieter, Auber, Bernd, Sutter, Christian, Arnold, Norbert , Hahnen, Eric, Dworniczak, Bernd, Wang-Gorke, Shan, Gehrig, Andrea, Weber, Bernhard H. F., Engel, Christoph , Lemke, Johannes R., Hartkopf, Andreas, Nguyen, Huu Phuc, Riess, Olaf und Schroeder, Christopher (2019) Investigating the effects of additional truncating variants in DNA-repair genes on breast cancer risk in BRCA1-positive women. BMC Cancer 19 (1). Volltext nicht vorhanden.

Günther, Sven, Elert-Dobkowska, Ewelina, Soehn, Anne S., Hinreiner, Sophie, Yoon, Grace, Heller, Raoul, Hellenbroich, Yorck, Hübner, Christian A., Ray, Peter N., Hehr, Ute, Bauer, Peter, Sulek, Anna und Beetz, Christian (2016) High Frequency of Pathogenic Rearrangements in SPG11 and Extensive Contribution of Mutational Hotspots and Founder Alleles. Human Mutation 37 (7), S. 703-709. Volltext nicht vorhanden.

Patterson, Marc, Bauer, Peter, Klünemann, Hans, Sedel, Frederic, Linden, David, Wraith, Ed, Pineda, Mercedes, Priller, Josef, Muller, Audrey, Chadha-Boreham, Harbajan, Remy, Christine und Balding, David (2011) ZOOM: Observational genetic screening study of Niemann-Pick Disease Type C in adults with neurological and psychiatric signs. Molecular Genetics and Metabolism 102 (2), S34. Volltext nicht vorhanden.

Edener, Ulf, Wöllner, Janine, Hehr, Ute, Kohl, Zacharias, Schilling, Stefan, Kreuz, Friedmar, Bauer, Peter, Bernard, Veronica, Gillessen-Kaesbach, Gabriele und Zühlke, Christine (2010) Early onset and slow progression of SCA28, a rare dominant ataxia in a large four-generation family with a novel AFG3L2 mutation. European Journal of Human Genetics 18 (8), S. 965-968. Volltext nicht vorhanden.

Bauer, Peter, Winner, Beate , Schüle, Rebecca, Bauer, Claudia, Häfele, Veronika, Hehr, Ute, Bonin, Michael, Walter, Michael , Karle, Kathrin, Ringer, Thomas M., Rieß, Olaf, Winkler, Jürgen und Schöls, Ludger (2009) Identification of a heterozygous genomic deletion in the spatacsin gene in SPG11 patients using high-resolution comparative genomic hybridization. neurogenetics 10 (1), S. 43-48. Volltext nicht vorhanden.

Schroeder, Christopher, Walter, Michael , Berg, Daniela, Leitner, Petra, Bauer, Peter, Kohl, Zacharias, Winkler, Jürgen, Riess, Olaf und Bonin, Michael (2008) High-Throughput Homogeneous Mass Cleave Assay Technology for the Diagnosis of Autosomal Recessive Parkinson's Disease. The Journal of Molecular Diagnostics 10 (3), S. 217-224. Volltext nicht vorhanden.

Hehr, Ute, Bauer, Peter, Winner, Beate , Bogdahn, Ulrich , Weber, Bernhard H. F., make_name_string expected hash reference, make_name_string expected hash reference, make_name_string expected hash reference, make_name_string expected hash reference, make_name_string expected hash reference, make_name_string expected hash reference, make_name_string expected hash reference, make_name_string expected hash reference , make_name_string expected hash reference, make_name_string expected hash reference , make_name_string expected hash reference, make_name_string expected hash reference, make_name_string expected hash reference, make_name_string expected hash reference, make_name_string expected hash reference, make_name_string expected hash reference , make_name_string expected hash reference, make_name_string expected hash reference, make_name_string expected hash reference und make_name_string expected hash reference (2007) Long-term course and mutational spectrum of spatacsin-linked spastic paraplegia. Annals of Neurology 27, S. 381-392. Volltext nicht vorhanden.

Metzger, Silke, Bauer, Peter, Tomiuk, Juergen, Laccone, Franco, Didonato, Stefano, Gellera, Cinzia, Soliveri, Paola, Lange, Herwig W., Weirich-Schwaiger, Helga, Wenning, Gregor K., Melegh, Bela, Havasi, Victoria, Balikó, Lazlo, Wieczorek, Stefan, Arning, Larissa, Zaremba, Jacek , Sulek, Anna , Hoffman-Zacharska, Dorota, Basak, A. Nazli, Ersoy, Nagehan, Zidovska, Jana, Kebrdlova, Vera, Pandolfo, Massimo, Ribaï, Pascale, Kadasi, Ludovit, Kvasnicova, Marta, Weber, Bernhard H. F., Kreuz, Friedmar, Dose, Matthias, Stuhrmann, Manfred und Riess, Olaf (2006) The S18Y polymorphism in the UCHL1 gene is a genetic modifier in Huntington's disease. Neurogenetics 7 (1), S. 27-30. Zugang zum Volltext eingeschränkt.

Pirlich, Matthias, Schütz, Tatjana, Norman, Kristina , Gastell, Sylvia, Lübke, Heinrich Josef, Bischoff, Stephan C., Bolder, Ulrich, Frieling, Thomas, Güldenzoph, Helge, Hahn, Kristian, Jauch, Karl-Walter, Schindler, Karin, Stein, Jürgen , Volkert, Dorothee, Weimann, Arved, Werner, Hansjörg, Wolf, Christiane, Zürcher, Gudrun, Bauer, Peter und Lochs, Herbert (2006) The German hospital malnutrition study. Clinical Nutrition 25 (4), S. 563-572. Volltext nicht vorhanden.

Lochs, Herbert, Mayer, Michael, Fleig, Wolfgang E., Mortensen, Per Brobech, Bauer, Peter, Genser, Dieter, Petritsch, Wolfgang, Raithel, Martin, Hoffmann, Rainer, Gross, V., Plauth, Mathias, Staun, Michael und Nesje, Lars Birger (2000) Prophylaxis of postoperative relapse in Crohn's disease with mesalamine: European cooperative Crohn's disease study VI. Gastroenterology 118 (2), S. 264-273. Volltext nicht vorhanden.