Items where Author is "Bauer, Peter"

Article

Sepahi, Ilnaz and Faust, Ulrike and Sturm, Marc and Bosse, Kristin and Kehrer, Martin and Heinrich, Tilman and Grundman-Hauser, Kathrin and Bauer, Peter and Ossowski, Stephan and Susak, Hana and Varon, Raymonda and Schroeck, Evelin and Niederacher, Dieter and Auber, Bernd and Sutter, Christian and Arnold, Norbert and Hahnen, Eric and Dworniczak, Bernd and Wang-Gorke, Shan and Gehrig, Andrea and Weber, Bernhard H. F. and Engel, Christoph and Lemke, Johannes R. and Hartkopf, Andreas and Huu Phuc Nguyen, and Riess, Olaf and 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): 787. ISSN 1471-2407

Guenther, Sven and Elert-Dobkowska, Ewelina and Soehn, Anne S. and Hinreiner, Sophie and Yoon, Grace and Heller, Raoul and Hellenbroich, Yorck and Huebner, Christian A. and Ray, Peter N. and Hehr, Ute and Bauer, Peter and Sulek, Anna and Beetz, Christian (2016) High Frequency of Pathogenic Rearrangements in SPG11 and Extensive Contribution of Mutational Hotspots and Founder Alleles. HUMAN MUTATION, 37 (7). pp. 703-709. ISSN 1059-7794, 1098-1004

Bauer, Peter and Balding, David J. and Kluenemann, Hans H. and Linden, David E. J. and Ory, Daniel S. and Pineda, Merce and Priller, Josef and Sedel, Frederic and Muller, Audrey and Chadha-Boreham, Harbajan and Welford, Richard W. D. and Strasser, Daniel S. and Patterson, Marc C. (2013) Genetic screening for NiemannPick disease type C in adults with neurological and psychiatric symptoms: findings from the ZOOM study. HUMAN MOLECULAR GENETICS, 22 (21). pp. 4349-4356. ISSN 0964-6906, 1460-2083

Muller, Audrey and Balding, David J. and Kluenemann, Hans H. and Linden, David and Ory, Daniel and Patterson, Marc C. and Pineda, Merce and Priller, Josef and Sedel, Frederic and Chadha-Boreham, Harbajan and Wraith, James E. and Bauer, Peter (2012) Challenges in Screening Rare Diseases: The ZOOM Experience. PHARMACOEPIDEMIOLOGY AND DRUG SAFETY, 21 (Suppl3). p. 202. ISSN 1053-8569

Patterson, Marc and Bauer, Peter and Kluenemann, Hans and Sedel, Frederic and Linden, David and Wraith, Ed and Pineda, Mercedes and Priller, Josef and Muller, Audrey and Chadha-Boreham, Harbajan and Remy, Christine and 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. ISSN 1096-7192, 1096-7206

Edener, Ulf and Woellner, Janine and Hehr, Ute and Kohl, Zacharias and Schilling, Stefan and Kreuz, Friedmar and Bauer, Peter and Bernard, Veronica and Gillessen-Kaesbach, Gabriele and Zuehlke, 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). pp. 965-968. ISSN 1018-4813, 1476-5438

Bauer, Peter and Winner, Beate and Schuele, Rebecca and Bauer, Claudia and Haefele, Veronika and Hehr, Ute and Bonin, Michael and Walter, Michael and Karle, Kathrin and Ringer, Thomas M. and Riess, Olaf and Winkler, Juergen and Schoels, Ludger (2009) Identification of a heterozygous genomic deletion in the spatacsin gene in SPG11 patients using high-resolution comparative genomic hybridization. NEUROGENETICS, 10 (1). pp. 43-48. ISSN 1364-6745, 1364-6753

Schroeder, Christopher and Walter, Michael and Berg, Daniela and Leitner, Petra and Bauer, Peter and Kohl, Zacharias and Winkler, JOrgen and Riess, Olaf and Bonin, Michael (2008) High-throughput homogeneous mass cleave assay technology for the diagnosis of autosomal recessive Parkinson's Disease. JOURNAL OF MOLECULAR DIAGNOSTICS, 10 (3). pp. 217-224. ISSN 1525-1578

Hehr, Ure and Bauer, Peter and Winner, Beate and Schule, Rebecca and Olmez, Akguen and Koehler, Wolfgang and Uyanik, Goelchan and Engel, Anna and Lenz, Damela and Seibel, Andrea and Hehr, Andreas and Ploetz, Sonja and Gamez, Josep and Rolfs, Arndt and Weis, Joachim and Ringer, Thomas M. and Bonin, Michael and Schuierer, Gerhard and Marienhagen, Joerg and Bogdahn, Ulrich and Weber, Bernhard H. F. and Topaloglu, Haluk and Schols, Ludger and Riess, Olaf and Winkler, Juergen (2007) Long-term course and mutational spectrum of spatacsin-linked spastic paraplegia. ANNALS OF NEUROLOGY, 62 (6). pp. 656-665. ISSN 0364-5134

Pirlich, Matthias and Schuetz, Tatjana and Norman, Kristina and Gastell, Sylvia and Luebke, Heinrich Josef and Bischoff, Stephan C. and Bolder, Ulrich and Frieling, Thomas and Gueldenzoph, Helge and Hahn, Kristian and Jauch, Karl-Walter and Schindler, Karin and Stein, Juergen and Volkert, Dorothee and Weimann, Arved and Werner, Hansjoerg and Wolf, Christiane and Zuercher, Gudrun and Bauer, Peter and Lochs, Herbert (2006) The German hospital malnutrition study. CLINICAL NUTRITION, 25 (4). pp. 563-572. ISSN 0261-5614

Metzger, Silke and Bauer, Peter and Tomiuk, Juergen and Laccone, Franco and Didonato, Stefano and Gellera, Cinzia and Soliveri, Paolo and Lange, Herwig W. and Weirich-Schwaiger, Helga and Wenning, Gregor K. and Melegh, Bela and Havasi, Victoria and Baliko, Laszlo and Wieczorek, Stefan and Arning, Larissa and Zaremba, Jacek and Sulek, Anna and Hoffman-Zacharska, Dorota and Basak, A. Nazli and Ersoy, Nagehan and Zidovska, Jana and Kebrdlova, Vera and Pandolfo, Massimo and Ribai, Pascale and Kadasi, Ludovit and Kvasnicova, Marta and Weber, Bernhard H. F. and Kreuz, Friedmar and Dose, Matthias and Stuhrmann, Manfred and Riess, Olaf (2006) The S18Y polymorphism in the UCHL1 gene is a genetic modifier in Huntington's disease. NEUROGENETICS, 7 (1). pp. 27-30. ISSN 1364-6745, 1364-6753

Lochs, Herbert and Mayer, Michael and Fleig, Wolfgang E. and Mortensen, Per Brobech and Bauer, Peter and Genser, Dieter and Petritsch, Wolfgang and Raithel, Martin and Hoffmann, Rainer and Gross, V. and Plauth, Mathias and Staun, Michael and Nesje, Lars Birger (2000) Prophylaxis of postoperative relapse in Crohn's disease with mesalamine: European Cooperative Crohn's disease Study VI. GASTROENTEROLOGY, 118 (2). pp. 264-273. ISSN 0016-5085

Other

Hebert, Eva and Borngraeber, Friederike and Schmidt, Alexander and Rakovic, Aleksandar and Braenne, Ingrid and Weissbach, Anne and Hampf, Jennie and Vollstedt, Eva-Juliane and Groesser, Leopold and Schaake, Susen and Mueller, Michaela and Manzoor, Humera and Jabusch, Hans-Christian and Alvarez-Fischer, Daniel and Kasten, Meike and Kostic, Vladimir S. and Gasser, Thomas and Zeuner, Kirsten E. and Kim, Han-Joon and Jeon, Beomseok and Bauer, Peter and Altenmueller, Eckart and Klein, Christine and Lohmann, Katja (2017) Functional Characterization of Rare RAB12 Variants and Their Role in Musician's and Other Dystonias. MDPI AG, BASEL.

Hendriksz, Christian J. and Anheim, Mathieu and Bauer, Peter and Bonnot, Olivier and Chakrapani, Anupam and Corvol, Jean-Christophe and de Koning, Tom J. and Degtyareva, Anna and Dionisi-Vici, Carlo and Doss, Sarah and Duning, Thomas and Giunti, Paola and Iodice, Rosa and Johnston, Tracy and Kelly, Dierdre and Kluenemann, Hans-Hermann and Lorenzl, Stefan and Padovani, Alessandro and Pocovi, Miguel and Synofzik, Matthis and Terblanche, Alta and Bergh, Florian Then and Topcu, Meral and Tranchant, Christine and Walterfang, Mark and Velten, Christian and Kolb, Stefan A. (2017) The hidden Niemann-Pick type C patient: clinical niches for a rare inherited metabolic disease. TAYLOR & FRANCIS LTD, ABINGDON.