Auflistung Universitätsbibliographie nach Titel

DSpace Repositorium (Manakin basiert)

Auflistung Universitätsbibliographie nach Titel

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  • "Mutations des valeurs" à l'Est et à l'Ouest? : perspectives historiques et sociologiques
    Neuheiser, Jörg; Rödder, Andreas (2009)
  • Mutations in ALK signaling pathways conferring resistance to ALK inhibitor treatment lead to collateral vulnerabilities in neuroblastoma cells
    Berlak, Mareike; Tucker, Elizabeth; Dorel, Mathurin; Winkler, Annika; McGearey, Aleixandria; Rodriguez-Fos, Elias; da Costa, Barbara Martins; Barker, Karen; Fyle, Elicia; Calton, Elizabeth; Eising, Selma; Ober, Kim; Hughes, Deborah; Koutroumanidou, Eleni; Carter, Paul; Stankunaite, Reda; Proszek, Paula; Jain, Neha; Rosswog, Carolina; Dorado-Garcia, Heathcliff; Molenaar, Jan Jasper; Hubank, Mike; Barone, Giuseppe; Anderson, John; Lang, Peter; Deubzer, Hedwig Elisabeth; Kuenkele, Annette; Fischer, Matthias; Eggert, Angelika; Kloft, Charlotte; Henssen, Anton George; Boettcher, Michael; Hertwig, Falk; Bluthgen, Nils; Chesler, Louis; Schulte, Johannes Hubertus (2022)
  • Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome
    Ammann, Sandra; Schulz, Ansgar; Kraegeloh-Mann, Ingeborg; Dieckmann, Nele M. G.; Niethammer, Klaus; Fuchs, Sebastian; Eckl, Katja Martina; Plank, Roswitha; Werner, Roland; Altmueller, Janine; Thiele, Holger; Nuernberg, Peter; Bank, Julia; Strauss, Anne; von Bernuth, Horst; zur Stadt, Udo; Grieve, Samantha; Griffiths, Gillian M.; Lehmberg, Kai; Hennies, Hans Christian; Ehl, Stephan (2016)
  • Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa
    Van Damme, Tim; Gardeitchik, Thatjana; Mohamed, Miski; Guerrero-Castillo, Sergio; Freisinger, Peter; Guillemyn, Brecht; Kariminejad, Ariana; Dalloyaux, Daisy; Van Kraaij, Sanne; Lefeber, Dirk J.; Syx, Delfien; Steyaert, Wouter; De Rycke, Riet; Hoischen, Alexander; Kamsteeg, Erik-Jan; Wong, Sunnie Y.; van Scherpenzeel, Monique; Jamali, Payman; Brandt, Ulrich; Nijtmans, Leo; Korenke, G. Christoph; Chung, Brian H. Y.; Mak, Christopher C. Y.; Hausser, Ingrid; Kornak, Uwe; Fischer-Zirnsak, Bjorn; Strom, Tim M.; Meitinger, Thomas; Alanay, Yasemin; Utine, Gulen E.; Leung, Peter K. C.; Ghaderi-Sohi, Siavash; Coucke, Paul; Symoens, Sofie; De Paepe, Anne; Thiel, Christian; Haack, Tobias B.; Malfait, Fransiska; Morava, Eva; Callewaert, Bert; Wevers, Ron A. (2017)
  • Mutations in BICD2 Cause Dominant Congenital Spinal Muscular Atrophy and Hereditary Spastic Paraplegia
    Oates, Emily C.; Rossor, Alexander M.; Hafezparast, Majid; Gonzalez, Michael; Speziani, Fiorella; MacArthur, Daniel G.; Lek, Monkol; Cottenie, Ellen; Scoto, Mariacristina; Foley, A. Reghan; Hurles, Matthew; Houlden, Henry; Greensmith, Linda; Auer-Grumbach, Michaela; Pieber, Thomas R.; Strom, Tim M.; Schule, Rebecca; Herrmann, David N.; Sowden, Janet E.; Acsadi, Gyula; Menezes, Manoj P.; Clarke, Nigel F.; Zuechner, Stephan; Muntoni, Francesco; North, Kathryn N.; Reilly, Mary M. (2013)
  • Mutations in BRCA1/2 and Other Panel Genes in Patients With Metastatic Breast Cancer -Association With Patient and Disease Characteristics and Effect on Prognosis
    Fasching, Peter A.; Yadav, Siddhartha; Hu, Chunling; Wunderle, Marius; Haeberle, Lothar; Hart, Steven N.; Ruebner, Matthias; Polley, Eric C.; Lee, Kun Y.; Gnanaolivu, Rohan D.; Hadji, Peyman; Huebner, Hanna; Tesch, Hans; Ettl, Johannes; Overkamp, Friedrich; Lux, Michael P.; Ekici, Arif B.; Volz, Bernhard; Uhrig, Sabrina; Lueftner, Diana; Wallwiener, Markus; Mueller, Volkmar; Belleville, Erik; Untch, Michael; Kolberg, Hans-Christian; Beckmann, Matthias W.; Reis, Andre; Hartmann, Arndt; Janni, Wolfgang; Wimberger, Pauline; Taran, Florin-Andrei; Fehm, Tanja N.; Wallwiener, Diethelm; Brucker, Sara Y.; Schneeweiss, Andreas; Hartkopf, Andreas D.; Couch, Fergus J. (2021)
  • Mutations in C8orf37, Encoding a Ciliary Protein, are Associated with Autosomal-Recessive Retinal Dystrophies with Early Macular Involvement
    Estrada-Cuzcano, Alejandro; Neveling, Kornelia; Kohl, Susanne; Banin, Eyal; Rotenstreich, Ygal; Sharon, Dror; Falik-Zaccai, Tzipora C.; Hipp, Stephanie; Roepman, Ronald; Wissinger, Bernd; Letteboer, Stef J. F.; Mans, Dorus A.; Blokland, Ellen A. W.; Kwint, Michael P.; Gijsen, Sabine J.; van Huet, Ramon A. C.; Collin, Rob W. J.; Scheffer, H.; Veltman, Joris A.; Zrenner, Eberhart; den Hollander, Anneke I.; Klevering, B. Jeroen; Cremers, Frans P. M. (2012)
  • Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia Defects
    Nikopoulos, Konstantinos; Farinelli, Pietro; Giangreco, Basilio; Tsika, Chrysanthi; Royer-Bertrand, Beryl; Mbefo, Martial K.; Bedoni, Nicola; Kjellstrom, Ulrika; El Zaoui, Ikram; Di Gioia, Silvio Alessandro; Balzano, Sara; Cisarova, Katarina; Messina, Andrea; Decembrini, Sarah; Plainis, Sotiris; Blazaki, Styliani V.; Khan, Muhammad Imran; Micheal, Shazia; Boldt, Karsten; Ueffing, Marius; Moulin, Alexandre P.; Cremers, Frans P. M.; Roepman, Ronald; Arsenijevic, Yvan; Tsilimbaris, Miltiadis K.; Andreasson, Sten; Rivolta, Carlo (2016)
  • Mutations in GABRB3. From febrile seizures to epileptic encephalopathies
    Moller, Rikke S.; Wuttke, Thomas V.; Helbig, Ingo; Marini, Carla; Johannesen, Katrine M.; Brilstra, Eva H.; Vaher, Ulvi; Borggraefe, Ingo; Talvik, Inga; Talvik, Tiina; Kluger, Gerhard; Francois, Laurence L.; Lesca, Gaetan; de Bellescize, Julitta; Blichfeldt, Susanne; Chatron, Nicolas; Holert, Nils; Jacobs, Julia; Swinkels, Marielle; Betzler, Cornelia; Syrbe, Steffen; Nikanorova, Marina; Myers, Candace T.; Larsen, Line H. G.; Vejzovic, Sabina; Pendziwiat, Manuela; von Spiczak, Sarah; Hopkins, Sarah; Dubbs, Holly; Mang, Yuan; Mukhin, Konstantin; Holthausen, Hans; van Gassen, Koen L.; Dahl, Hans A.; Tommerup, Niels; Mefford, Heather C.; Rubboli, Guido; Guerrini, Renzo; Lemke, Johannes R.; Lerche, Holger; Muhle, Hiltrud; Maljevic, Snezana (2017)
  • Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes
    Lemke, Johannes R.; Lal, Dennis; Reinthaler, Eva M.; Steiner, Isabelle; Nothnagel, Michael; Alber, Michael; Geider, Kirsten; Laube, Bodo; Schwake, Michael; Finsterwalder, Katrin; Franke, Andre; Schilhabel, Markus; Jaehn, Johanna A.; Muhle, Hiltrud; Boor, Rainer; Van Paesschen, Wim; Caraballo, Roberto; Fejerman, Natalio; Weckhuysen, Sarah; De Jonghe, Peter; Larsen, Jan; Moller, Rikke S.; Hjalgrim, Helle; Addis, Laura; Tang, Shan; Hughes, Elaine; Pal, Deb K.; Veri, Kadi; Vaher, Ulvi; Talvik, Tiina; Dimova, Petia; Lopez, Rosa Guerrero; Serratosa, Jose M.; Linnankivi, Tarja; Lehesjoki, Anna-Elina; Ruf, Susanne; Wolff, Markus; Buerki, Sarah; Wohlrab, Gabriele; Kroell, Judith; Datta, Alexandre N.; Fiedler, Barbara; Kurlemann, Gerhard; Kluger, Gerhard; Hahn, Andreas; Haberlandt, D. Edda; Kutzer, Christina; Sperner, Juergen; Becker, Felicitas; Weber, Yvonne G.; Feucht, Martha; Steinboeck, Hannelore; Neophythou, Birgit; Ronen, Gabriel M.; Gruber-Sedlmayr, Ursula; Geldner, Julia; Harvey, Robert J.; Hoffmann, Per; Herms, Stefan; Altmueller, Janine; Toliat, Mohammad R.; Thiele, Holger; Nuernberg, Peter; Wilhelm, Christian; Stephani, Ulrich; Helbig, Ingo; Lerche, Holger; Zimprich, Fritz; Neubauer, Bernd A.; Biskup, Saskia; von Spiczak, Sarah (2013)
  • Mutations in IMPG1 Cause Vitelliform Macular Dystrophies
    Manes, Gael; Meunier, Isabelle; Avila-Fernandez, Almudena; Banfi, Sandro; Le Meur, Guylene; Zanlonghi, Xavier; Corton, Marta; Simonelli, Francesca; Brabet, Philippe; Labesse, Gilles; Audo, Isabelle; Mohand-Said, Saddek; Zeitz, Christina; Sahel, Jose-Alain; Weber, Michel; Dollfus, Helene; Dhaenens, Claire-Marie; Allorge, Delphine; De Baere, Elfride; Koenekoop, Robert K.; Kohl, Susanne; Cremers, Frans P. M.; Hollyfield, Joe G.; Senechal, Audrey; Hebrard, Maxime; Bocquet, Beatrice; Ayuso Garcia, Carmen; Hamel, Christian P. (2013)
  • Mutations in INF2 may be associated with renal histology other than focal segmental glomerulosclerosis
    Buescher, Anja K.; Celebi, Nora; Hoyer, Peter F.; Klein, Hanns-Georg; Weber, Stefanie; Hoefele, Julia (2018)
  • Mutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndrome
    Braun, Daniela A.; Sadowski, Carolin E.; Kohl, Stefan; Lovric, Svjetlana; Astrinidis, Susanne A.; Pabst, Werner L.; Gee, Heon Yung; Ashraf, Shazia; Lawson, Jennifer A.; Shril, Shirlee; Airik, Merlin; Tan, Weizhen; Schapiro, David; Rao, Jia; Choi, Won-Il; Hermle, Tobias; Kemper, Markus J.; Pohl, Martin; Ozaltin, Fatih; Konrad, Martin; Bogdanovic, Radovan; Buescher, Rainer; Helmchen, Udo; Serdaroglu, Erkin; Lifton, Richard P.; Antonin, Wolfram; Hildebrandt, Friedhelm (2016)
  • Mutations in phospholipase DDHD2 cause autosomal recessive hereditary spastic paraplegia (SPG54)
    Gonzalez, Michael; Nampoothiri, Sheela; Kornblum, Cornelia; Oteyza, Andres Caballero; Walter, Jochen; Konidari, Ioanna; Hulme, William; Speziani, Fiorella; Schoels, Ludger; Zuechner, Stephan; Schuele, Rebecca (2013)
  • Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases
    Murakami, Yoshiko; Thi Tuyet Mai Nguyen; Baratang, Nissan; Raju, Praveen K.; Knaus, Alexej; Ellard, Sian; Jones, Gabriela; Lace, Baiba; Rousseau, Justine; Ajeawung, Norbert Fonya; Kamei, Atsushi; Minase, Gaku; Akasaka, Manami; Araya, Nami; Koshimizu, Eriko; van den Ende, Jenneke; Erger, Florian; Altmueller, Janine; Krumina, Zita; Strautmanis, Jurgis; Inashkina, Inna; Stavusis, Janis; El-Gharbawy, Areeg; Sebastian, Jessica; Puri, Ratna Dua; Kulshrestha, Samarth; Verma, Ishwar C.; Maier, Esther M.; Haack, Tobias B.; Israni, Anil; Baptista, Julia; Gunning, Adam; Rosenfeld, Jill A.; Liu, Pengfei; Joosten, Marieke; Rocha, Maria Eugenia; Hashem, Mais O.; Aldhalaan, Hesham M.; Alkuraya, Fowzan S.; Miyatake, Satoko; Matsumoto, Naomichi; Krawitz, Peter M.; Rossignol, Elsa; Kinoshita, Taroh; Campeau, Philippe M. (2019)
  • Mutations in POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and/or hypogonadotropic hypogonadism
    Daoud, Hussein; Tetreault, Martine; Gibson, William; Guerrero, Kether; Cohen, Ana; Gburek-Augustat, Janina; Synofzik, Matthis; Brais, Bernard; Stevens, Cathy A.; Sanchez-Carpintero, Rocio; Goizet, Cyril; Naidu, Sakkubai; Vanderver, Adeline; Bernard, Genevieve (2013)
  • Mutations in PPCS, Encoding Phosphopantothenoylcysteine Synthetase, Cause Autosomal-Recessive Dilated Cardiomyopathy
    Iuso, Arcangela; Wiersma, Marit; Schueller, Hans-Joachim; Pode-Shakked, Ben; Marek-Yagel, Dina; Grigat, Mathias; Schwarzmayr, Thomas; Berutti, Riccardo; Alhaddad, Bader; Kanon, Bart; Grzeschik, Nicola A.; Okun, Juergen G.; Perles, Zeev; Salem, Yishay; Barel, Ortal; Vardi, Amir; Rubinshtein, Marina; Tirosh, Tal; Dubnov-Raz, Gal; Messias, Ana C.; Terrile, Caterina; Barshack, Iris; Volkov, Alex; Avivi, Camilla; Eyal, Eran; Mastantuono, Elisa; Kumbar, Muhamad; Abudi, Shachar; Braunisch, Matthias; Strom, Tim M.; Meitinger, Thomas; Hoffmann, Georg F.; Prokisch, Holger; Haack, Tobias B.; Brundel, Bianca J. J. M.; Haas, Dorothea; Sibon, Ody C. M.; Anikster, Yair (2018)
  • Mutations in protein N-arginine methyltransferases are not the cause of FTLD-FUS
    Ravenscroft, Thomas A.; Baker, Matt C.; Rutherford, Nicola J.; Neumann, Manuela; Mackenzie, Ian R.; Josephs, Keith A.; Boeve, Bradley F.; Petersen, Ronald; Halliday, Glenda M.; Kril, Jillian; van Swieten, John C.; Seeley, William W.; Dickson, Dennis W.; Rademakers, Rosa (2013)
  • Mutations in RAB28, Encoding a Farnesylated Small GTPase, Are Associated with Autosomal-Recessive Cone-Rod Dystrophy
    Roosing, Susanne; Rohrschneider, Klaus; Beryozkin, Avigail; Sharon, Dror; Weisschuh, Nicole; Staller, Jennifer; Kohl, Susanne; Zelinger, Lina; Peters, Theo A.; Neveling, Kornelia; Strom, Tim M.; van den Bom, L. Ingeborgh; Hoyng, Carel B.; Klaver, Caroline C. W.; Roepman, Ronald; Wissinger, Bernd; Banin, Eyal; Cremers, Frans P. M.; den Hollander, Anneke I. (2013)
  • Mutations in RHOT1 Disrupt Endoplasmic Reticulum-Mitochondria Contact Sites Interfering with Calcium Homeostasis and Mitochondrial Dynamics in Parkinson's Disease
    Grossmann, Dajana; Berenguer-Escuder, Clara; Bellet, Marie Estelle; Scheibner, David; Bohler, Jill; Massart, Francois; Rapaport, Doron; Skupin, Alexander; d'Herouel, Aymeric Fouquier; Sharma, Manu; Ghelfi, Jenny; Rakovic, Aleksandar; Lichtner, Peter; Antony, Paul; Glaab, Enrico; May, Patrick; Dimmer, Kai Stefan; Fitzgerald, Julia Catherine; Gruenewald, Anne; Krueger, Rejko (2019)