Auflistung 4 Medizinische Fakultät nach Titel

DSpace Repositorium (Manakin basiert)

Auflistung 4 Medizinische Fakultät nach Titel

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  • 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 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)
  • Mutations in SEC24D, Encoding a Component of the COPII Machinery, Cause a Syndromic Form of Osteogenesis Imperfecta
    Garbes, Lutz; Kim, Kyungho; Riess, Angelika; Hoyer-Kuhn, Heike; Beleggia, Filippo; Bevot, Andrea; Kim, Mi Jeong; Huh, Yang Hoon; Kweon, Hee-Seok; Savarirayan, Ravi; Amor, David; Kakadia, Purvi M.; Lindig, Tobias; Kagan, Karl Oliver; Becker, Jutta; Boyadjiev, Simeon A.; Wollnik, Bernd; Semler, Oliver; Bohlander, Stefan K.; Kim, Jinoh; Netzer, Christian (2015)
  • Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder
    Abrams, Alexander J.; Hufnagel, Robert B.; Rebelo, Adriana; Zanna, Claudia; Patel, Neville; Gonzalez, Michael A.; Campeanu, Ion J.; Griffin, Laurie B.; Groenewald, Saskia; Strickland, Alleene V.; Tao, Feifei; Speziani, Fiorella; Abreu, Lisa; Schuele, Rebecca; Caporali, Leonardo; La Morgia, Chiara; Maresca, Alessandra; Liguori, Rocco; Lodi, Raffaele; Ahmed, Zubair M.; Sund, Kristen L.; Wang, Xinjian; Krueger, Laura A.; Peng, Yanyan; Prada, Carlos E.; Prows, Cynthia A.; Schorry, Elizabeth K.; Antonellis, Anthony; Zimmerman, Holly H.; Abdul-Rahman, Omar A.; Yang, Yaping; Downes, Susan M.; Prince, Jeffery; Fontanesi, Flavia; Barrientos, Antonio; Nemeth, Andrea H.; Carelli, Valerio; Huang, Taosheng; Zuchner, Stephan; Dallman, Julia E. (2015)
  • Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes
    Schubert, Julian; Siekierska, Aleksandra; Langlois, Melanie; May, Patrick; Huneau, Clement; Becker, Felicitas; Muhle, Hiltrud; Suls, Arvid; Lemke, Johannes R.; de Kovel, Carolien G. F.; Thiele, Holger; Konrad, Kathryn; Kawalia, Amit; Toliat, Mohammad R.; Sander, Thomas; Rueschendorf, Franz; Caliebe, Almuth; Nagel, Inga; Kohl, Bernard; Kecskes, Angela; Jacmin, Maxime; Hardies, Katia; Weckhuysen, Sarah; Riesch, Erik; Dorn, Thomas; Brilstra, Eva H.; Baulac, Stephanie; Moller, Rikke S.; Hjalgrim, Helle; Koeleman, Bobby P. C.; Jurkat-Rott, Karin; Lehman-Horn, Frank; Roach, Jared C.; Glusman, Gustavo; Hood, Leroy; Galas, David J.; Martin, Benoit; de Witte, Peter A. M.; Biskup, Saskia; De Jonghe, Peter; Helbig, Ingo; Balling, Rudi; Nuernberg, Peter; Crawford, Alexander D.; Esguerra, Camila V.; Weber, Yvonne G.; Lerche, Holger (2014)
  • Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12
    Montenegro, Gladys; Rebelo, Adriana P.; Connell, James; Allison, Rachel; Babalini, Carla; D'Aloia, Michela; Montieri, Pasqua; Schuele, Rebecca; Ishiura, Hiroyuki; Price, Justin; Strickland, Alleene; Gonzalez, Michael A.; Baumbach-Reardon, Lisa; Deconinck, Tine; Huang, Jia; Bernardi, Giorgio; Vance, Jeffery M.; Rogers, Mark T.; Tsuji, Shoji; De Jonghe, Peter; Pericak-Vance, Margaret A.; Schoels, Ludger; Orlacchio, Antonio; Reid, Evan; Zuechner, Stephan (2012)
  • Mutations in the gene PDE6C encoding the catalytic subunit of the cone photoreceptor phosphodiesterase in patients with achromatopsia
    Weisschuh, Nicole; Stingl, Katarina; Audo, Isabelle; Biskup, Saskia; Bocquet, Beatrice; Branham, Kari; Burstedt, Marie S.; De Baere, Elfride; De Vries, Meindert J.; Golovleva, Irina; Green, Andrew; Heckenlively, John; Leroy, Bart P.; Meunier, Isabelle; Traboulsi, Elias; Wissinger, Bernd; Kohl, Susanne (2018)
  • Mutations in the Genes for Interphotoreceptor Matrix Proteoglycans, IMPG1 and IMPG2, in Patients with Vitelliform Macular Lesions
    Brandl, Caroline; Schulz, Heidi L.; Issa, Peter Charbel; Birtel, Johannes; Bergholz, Richard; Lange, Clemens; Dahlke, Claudia; Zobor, Ditta; Weber, Bernhard H. F.; Stoehr, Heidi (2017)
  • Mutations in the GM1 Binding Site of Simian Virus 40 VP1 Alter Receptor Usage and Cell Tropism
    Magaldi, Thomas G.; Buch, Michael H. C.; Murata, Haruhiko; Erickson, Kimberly D.; Neu, Ursula; Garcea, Robert L.; Peden, Keith; Stehle, Thilo; DiMaio, Daniel (2012)
  • Mutations in the sodium channel gene SCN2A cause neonatal epilepsy with late-onset episodic ataxia
    Schwarz, N.; Hahn, A.; Bast, T.; Mueller, S.; Loeffler, H.; Maljevic, S.; Gaily, E.; Prehl, I.; Biskup, S.; Joensuu, T.; Lehesjoki, A. -E.; Neubauer, B. A.; Lerche, H.; Hedrich, U. B. S. (2016)