Identification of 22 susceptibility loci associated with testicular germ cell tumors von Pluta, John, Pyle, Louise C., Nead, Kevin T., Wilf, Rona, Li, Mingyao, Mitra, Nandita, Weathers, Benita, D’Andrea, Kurt, Almstrup, Kristian, Anson-Cartwright, Lynn, Benitez, Javier, Brown, Christopher D., Chanock, Stephen, Chen, Chu, Cortessis, Victoria K., Ferlin, Alberto, Foresta, Carlo, Gamulin, Marija, Gietema, Jourik A., Grasso, Chiara, Greene, Mark H., Grotmol, Tom, Hamilton, Robert J., Haugen, Trine B., Hauser, Russ, Hildebrandt, Michelle A. T., Johnson, Matthew E., Karlsson, Robert, Kiemeney, Lambertus A., Lessel, Davor, Lothe, Ragnhild A., Loud, Jennifer T., Loveday, Chey, Martin-Gimeno, Paloma, Meijer, Coby, Nsengimana, Jérémie, Quinn, David I., Rafnar, Thorunn, Ramdas, Shweta, Richiardi, Lorenzo, Skotheim, Rolf I., Stefansson, Kari, Turnbull, Clare, Vaughn, David J., Wiklund, Fredrik, Wu, Xifeng, Yang, Daphne, Zheng, Tongzhang, Wells, Andrew D., Grant, Struan F. A., Rajpert-De Meyts, Ewa, Schwartz, Stephen M., Bishop, D. Timothy, McGlynn, Katherine A., Kanetsky, Peter A., Nathanson, Katherine L.

Volltext

Increased copper toxicity in Saccharomyces cerevisiae lacking VPS35, a component of the retromer and monogenic Parkinson disease gene in humans von Sowada, Nadine, Stiller, Barbara, Kubisch, Christian

Volltext

Neurofilaments in the diagnosis of motoneuron diseases: a prospective study on 455 patients von Steinacker, Petra, Feneberg, Emily, Weishaupt, Jochen, Brettschneider, Johannes, Tumani, Hayrettin, Andersen, Peter M, von Arnim, Christine A F, Böhm, Sarah, Kassubek, Jan, Kubisch, Christian, Lulé, Dorothée, Müller, Hans-Peter, Muche, Rainer, Pinkhardt, Elmar, Oeckl, Patrick, Rosenbohm, Angela, Anderl-Straub, Sarah, Volk, Alexander E, Weydt, Patrick, Ludolph, Albert C, Otto, Markus

Volltext

Cav2.3 channels contribute to dopaminergic neuron loss in a model of Parkinson’s disease von Benkert, Julia, Hess, Simon, Roy, Shoumik, Beccano-Kelly, Dayne, Wiederspohn, Nicole, Duda, Johanna, Simons, Carsten, Patil, Komal, Gaifullina, Aisylu, Mannal, Nadja, Dragicevic, Elena, Spaich, Desirée, Müller, Sonja, Nemeth, Julia, Hollmann, Helene, Deuter, Nora, Mousba, Yassine, Kubisch, Christian, Poetschke, Christina, Striessnig, Joerg, Pongs, Olaf, Schneider, Toni, Wade-Martins, Richard, Patel, Sandip, Parlato, Rosanna, Frank, Tobias, Kloppenburg, Peter, Liss, Birgit

Volltext

Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene von Meindl, Alfons, Hellebrand, Heide, Wiek, Constanze, Erven, Verena, Wappenschmidt, Barbara, Niederacher, Dieter, Freund, Marcel, Lichtner, Peter, Hartmann, Linda, Schaal, Heiner, Ramser, Juliane, Honisch, Ellen, Kubisch, Christian, Wichmann, Hans E, Kast, Karin, Deißler, Helmut, Engel, Christoph, Müller-Myhsok, Bertram, Neveling, Kornelia, Kiechle, Marion, Mathew, Christopher G, Schindler, Detlev, Schmutzler, Rita K, Hanenberg, Helmut

Volltext

Psychological distress of adult patients consulting a center for rare and undiagnosed diseases: a cross-sectional study von Mund, Meike, Uhlenbusch, Natalie, Rillig, Franziska, Weiler-Normann, Christina, Herget, Theresia, Kubisch, Christian, Löwe, Bernd, Schramm, Christoph

Volltext

Dysfunction of the MDM2/p53 axis is linked to premature aging von Lessel, Davor, Wu, Danyi, Trujillo, Carlos, Ramezani, Thomas, Lessel, Ivana, Alwasiyah, Mohammad K, Saha, Bidisha, Hisama, Fuki M, Rading, Katrin, Goebel, Ingrid, Schütz, Petra, Speit, Günter, Högel, Josef, Thiele, Holger, Nürnberg, Gudrun, Nürnberg, Peter, Hammerschmidt, Matthias, Zhu, Yan, Tong, David R, Katz, Chen, Martin, George M, Oshima, Junko, Prives, Carol, Kubisch, Christian

Volltext

De novo FUS mutations are the most frequent genetic cause in early-onset German ALS patients von Hübers, Annemarie, Just, Walter, Rosenbohm, Angela, Müller, Kathrin, Marroquin, Nicolai, Goebel, Ingrid, Högel, Josef, Thiele, Holger, Altmüller, Janine, Nürnberg, Peter, Weishaupt, Jochen H, Kubisch, Christian, Ludolph, Albert C, Volk, Alexander E

Volltext

Craniosynostosis and Multiple Skeletal Anomalies in Humans and Zebrafish Result from a Defect in the Localized Degradation of Retinoic Acid von Laue, Kathrin, Pogoda, Hans-Martin, Daniel, Philip B., van Haeringen, Arie, Alanay, Yasemin, von Ameln, Simon, Rachwalski, Martin, Morgan, Tim, Gray, Mary J., Breuning, Martijn H., Sawyer, Gregory M., Sutherland-Smith, Andrew J., Nikkels, Peter G., Kubisch, Christian, Bloch, Wilhelm, Wollnik, Bernd, Hammerschmidt, Matthias, Robertson, Stephen P.

Volltext

Expanding the clinical spectrum of COL2A1 related disorders by a mass like phenotype von Demal, Till Joscha, Scholz, Tasja, Schüler, Helke, Olfe, Jakob, Fröhlich, Anja, Speth, Fabian, von Kodolitsch, Yskert, Mir, Thomas S., Reichenspurner, Hermann, Kubisch, Christian, Hempel, Maja, Rosenberger, Georg

Volltext

Polymerase chain reaction and Southern blot-based analysis of the C9orf72 hexanucleotide repeat in different motor neuron diseases von Hübers, Annemarie, Marroquin, Nicolai, Schmoll, Birgit, Vielhaber, Stefan, Just, Marlies, Mayer, Benjamin, Högel, Josef, Dorst, Johannes, Mertens, Thomas, Just, Walter, Aulitzky, Anna, Wais, Verena, Ludolph, Albert C, Kubisch, Christian, Weishaupt, Jochen H, Volk, Alexander E

Volltext

Fatal Myelotoxicity Following Palliative Chemotherapy With Cisplatin and Gemcitabine in a Patient With Stage IV Cholangiocarcinoma Linked to Post Mortem Diagnosis of Fanconi Anemia von Engel, Nils W, Schliffke, Simon, Schüller, Ulrich, Frenzel, Christian, Bokemeyer, Carsten, Kubisch, Christian, Lessel, Davor

Volltext

Functional Loss of Terminal Complement Complex Protects Rabbits from Injury-Induced Osteoarthritis on Structural and Cellular Level von Riegger, Jana, Joos, Helga, Möhler, Valentin, Leucht, Frank, Rading, Katrin, Kubisch, Christian, Ignatius, Anita, Huber-Lang, Markus, Brenner, Rolf E

Volltext

Author Correction: Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology von Elouej, Sahar, Harhouri, Karim, Mao, Morgane Le, Baujat, Genevieve, Nampoothiri, Sheela, Kayserili, Hϋlya, Menabawy, Nihal Al, Selim, Laila, Paneque, Arianne Llamos, Kubisch, Christian, Lessel, Davor, Rubinsztajn, Robert, Charar, Chayki, Bartoli, Catherine, Airault, Coraline, Deleuze, Jean-François, Rötig, Agnes, Bauer, Peter, Pereira, Catarina, Loh, Abigail, Escande-Beillard, Nathalie, Muchir, Antoine, Martino, Lisa, Gruenbaum, Yosef, Lee, Song-Hua, Manivet, Philippe, Lenaers, Guy, Reversade, Bruno, Lévy, Nicolas, De Sandre-Giovannoli, Annachiara

Volltext

Geteiltes Wissen – Wissensentwicklung in Disziplin und Profession Sozialer Arbeit

Volltext

Multimodal characterization of dilated cardiomyopathy: Geno‐ And Phenotyping of PrImary Cardiomyopathy (GrAPHIC) von Keil, Laura, Berisha, Filip, Ritter, Stella, Skibowski, Johanna, Subramanian, Hariharan, Nikolaev, Viacheslav O., Kubisch, Christian, Woitschach, Rixa, Fabritz, Larissa, Twerenbold, Raphael, Blankenberg, Stefan, Weidemann, Sören, Zeller, Tanja, Kirchhof, Paulus, Reichart, Daniel, Magnussen, Christina

Volltext

Clinical utility gene card for: Werner Syndrome--Update 2014 von Hisama, Fuki M, Kubisch, Christian, Martin, George M, Oshima, Junko

Volltext

A Potassium Channel Mutation in Neonatal Human Epilepsy von Biervert, Christian, Schroeder, Björn C., Kubisch, Christian, Berkovic, Samuel F., Propping, Peter, Jentsch, Thomas J., Steinlein, Ortrud K.

Volltext

A complex form of hereditary spastic paraplegia in three siblings due to somatic mosaicism for a novel SPAST mutation in the mother von Aulitzky, Anna, Friedrich, Katrin, Gläser, Dieter, Gastl, Regina, Kubisch, Christian, Ludolph, Albert C, Volk, Alexander E

Volltext

A rare missense variant abrogates the signaling activity of tetherin/BST-2 without affecting its effect on virus release von Sauter, Daniel, Hotter, Dominik, Engelhart, Susanne, Giehler, Fabian, Kieser, Arnd, Kubisch, Christian, Kirchhoff, Frank

Volltext