Auflistung 4 Medizinische Fakultät nach Titel

DSpace Repositorium (Manakin basiert)

Auflistung 4 Medizinische Fakultät nach Titel

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  • Mutation screen reveals novel variants and expands the phenotypes associated with DYNC1H1
    Strickland, Alleene V.; Schabhuettl, Maria; Offenbacher, Hans; Synofzik, Matthis; Hauser, Natalie S.; Brunner-Krainz, Michaela; Gruber-Sedlmayr, Ursula; Moore, Steven A.; Windhager, Reinhard; Bender, Benjamin; Harms, Matthew; Klebe, Stephan; Young, Peter; Kennerson, Marina; Garcia, Avencia Sanchez Mejias; Gonzalez, Michael A.; Zuechner, Stephan; Schule, Rebecca; Shy, Michael E.; Auer-Grumbach, Michaela (2015)
  • Mutation spectrum and clinical investigation of achromatopsia patients with mutations in the GNAT2 gene
    Felden, Julia; Baumann, Britta; Ali, Manir; Audo, Isabelle; Ayuso, Carmen; Bocquet, Beatrice; Casteels, Ingele; Garcia-Sandoval, Blanca; Jacobson, Samuel G.; Jurklies, Bernhard; Kellner, Ulrich; Kessel, Line; Lorenz, Birgit; McKibbin, Martin; Meunier, Isabelle; deRavel, Thorny; Rosenberg, Thomas; Ruether, Klaus; Vadala, Maria; Wissinger, Bernd; Stingl, Katarina; Kohl, Susanne (2019)
  • Mutation spectrum of the OPA1 gene in a large cohort of patients with suspected dominant optic atrophy: Identification and classification of 48 novel variants
    Weisschuh, Nicole; Schimpf-Linzenbold, Simone; Mazzola, Pascale; Kieninger, Sinja; Xiao, Ting; Kellner, Ulrich; Neuhann, Teresa; Kelbsch, Carina; Tonagel, Felix; Wilhelm, Helmut; Kohl, Susanne; Wissinger, Bernd (2021)
  • Mutational analysis of a phenazine biosynthetic gene cluster in Streptomyces anulatus 9663
    Saleh, Orwah; Flinspach, Katrin; Westrich, Lucia; Kulik, Andreas; Gust, Bertolt; Fiedler, Hans-Peter; Heide, Lutz (2012)
  • Mutational Mapping of pUL131A of Human Cytomegalovirus Emphasizes Its Central Role for Endothelial Cell Tropism
    Schuessler, Andrea; Sampaio, Kerstin Laib; Straschewski, Sarah; Sinzger, Christian (2012)
  • Mutational Origin of Machado-Joseph Disease in the Australian Aboriginal Communities of Groote Eylandt and Yirrkala
    Martins, Sandra; Soong, Bing-Wen; Wong, Virginia C. N.; Giunti, Paola; Stevanin, Giovanni; Ranum, Laura P. W.; Sasaki, Hidenao; Riess, Olaf; Tsuji, Shoji; Coutinho, Paula; Amorim, Antonio; Sequeiros, Jorge; Nicholson, Garth A. (2012)
  • Mutational profile and EBV strains of extranodal NK/T-cell lymphoma, nasal type in Latin America
    Montes-Mojarro, Ivonne A.; Chen Bo-Jung; Ramirez-Ibarguen, Ana F.; Quezada-Fiallos, Carmen M.; Perez-Baez, Wendy B.; Duenas, Daniela; Casavilca-Zambrano, Sandro; Ortiz-Mayor, Marcela; Rojas-Bilbao, Erica; Garcia-Rivello, Hernan; Metrebian, Maria F.; Narbaitz, Marina; Barrionuevo, Carlos; Lome-Maldonado, Carmen; Bonzheim, Irina; Fend, Falko; Steinhilber, Julia; Quintanilla-Martinez, Leticia (2020)
  • Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations
    Rebbeck, Timothy R.; Friebel, Tara M.; Friedman, Eitan; Hamann, Ute; Huo, Dezheng; Kwong, Ava; Olah, Edith; Olopade, Olufunmilayo I.; Solano, Angela R.; Teo, Soo-Hwang; Thomassen, Mads; Weitzel, Jeffrey N.; Chan, T. L.; Couch, Fergus J.; Goldgar, David E.; Kruse, Torben A.; Palmero, Edenir Inez; Park, Sue Kyung; Torres, Diana; van Rensburg, Elizabeth J.; McGuffog, Lesley; Parsons, Michael T.; Leslie, Goska; Aalfs, Cora M.; Abugattas, Julio; Adlard, Julian; Agata, Simona; Aittomaki, Kristiina; Andrews, Lesley; Andrulis, Irene L.; Arason, Adalgeir; Arnold, Norbert; Arun, Banu K.; Asseryanis, Ella; Auerbach, Leo; Azzollini, Jacopo; Balmana, Judith; Barile, Monica; Barkardottir, Rosa B.; Barrowdale, Daniel; Benitez, Javier; Berger, Andreas; Berger, Raanan; Blanco, Amie M.; Blazer, Kathleen R.; Blok, Marinus J.; Bonadona, Valerie; Bonanni, Bernardo; Bradbury, Angela R.; Brewer, Carole; Buecher, Bruno; Buys, Saundra S.; Caldes, Trinidad; Caliebe, Almuth; Caligo, Maria A.; Campbell, Ian; Caputo, Sandrine M.; Chiquette, Jocelyne; Chung, Wendy K.; Claes, Kathleen B. M.; Collee, J. Margriet; Cook, Jackie; Davidson, Rosemarie; de la Hoya, Miguel; De Leeneer, Kim; de Pauw, Antoine; Delnatte, Capucine; Diez, Orland; Ding, Yuan Chun; Ditsch, Nina; Domchek, SusanM.; Dorfling, Cecilia M.; Velazquez, Carolina; Dworniczak, Bernd; Eason, Jacqueline; Easton, Douglas F.; Eeles, Ros; Ehrencrona, Hans; Ejlertsen, Bent; Engel, Christoph; Engert, Stefanie; Evans, D. Gareth; Faivre, Laurence; Feliubadalo, Lidia; Ferrer, Sandra Fert; Foretova, Lenka; Fowler, Jeffrey; Frost, Debra; Galvao, Henrique C. R.; Ganz, Patricia A.; Garber, Judy; Gauthier-Villars, Marion; Gehrig, Andrea; Gerdes, Anne-Marie; Gesta, Paul; Giannini, Giuseppe; Giraud, Sophie; Glendon, Gord; Godwin, Andrew K.; Greene, Mark H.; Gronwald, Jacek (2018)
  • Mutationen der Gene C-KIT und CTNNB1 in extranodalen NK-/T-Zell-Lymphomen, untersucht anhand eines internationalen Probenkollektivs aus Singapur, Peru und Deutschland
    Hölzl, Florian (2015)
  • Mutationen der Gene LRRK2 und SNCA bei autosomal-dominantem Parkinson-Syndrom in der Türkei
    Keßler, Christoph Martin (2019)
  • Mutations at a split codon in the GTPase-encoding domain of OPA1 cause dominant optic atrophy through different molecular mechanisms
    Weisschuh, Nicole; Marino, Valerio; Schaeferhoff, Karin; Richter, Paul; Park, Joohyun; Haack, Tobias B.; Dell'Orco, Daniele (2022)
  • 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)