Zeitschriftenartikel (1249)

961.
Zeitschriftenartikel
Baud, A.; Hermsen, R.; Guryev, V.; Stridh, P.; Graham, D.; McBride, M. W.; Foroud, T.; Calderari, S.; Diez, M.; Ockinger, J. et al.; Beyeen, A. D.; Gillett, A.; Abdelmagid, N.; Guerreiro-Cacais, A. O.; Jagodic, M.; Tuncel, J.; Norin, U.; Beattie, E.; Huynh, N.; Miller, W. H.; Koller, D. L.; Alam, I.; Falak, S.; Osborne-Pellegrin, M.; Martinez-Membrives, E.; Canete, T.; Blazquez, G.; Vicens-Costa, E.; Mont-Cardona, C.; Diaz-Moran, S.; Tobena, A.; Hummel, O.; Zelenika, D.; Saar, K.; Patone, G.; Bauerfeind, A.; Bihoreau, M. T.; Heinig, M.; Lee, Y. A.; Rintisch, C.; Schulz, H.; Wheeler, D. A.; Worley, K. C.; Muzny, D. M.; Gibbs, R. A.; Lathrop, M.; Lansu, N.; Toonen, P.; Ruzius, F. P.; de Bruijn, E.; Hauser, H.; Adams, D. J.; Keane, T.; Atanur, S. S.; Aitman, T. J.; Flicek, P.; Malinauskas, T.; Jones, E. Y.; Ekman, D.; Lopez-Aumatell, R.; Dominiczak, A. F.; Johannesson, M.; Holmdahl, R.; Olsson, T.; Gauguier, D.; Hubner, N.; Fernandez-Teruel, A.; Cuppen, E.; Mott, R.; Flint, J.: Combined sequence-based and genetic mapping analysis of complex traits in outbred rats. Nature Genetics 45 (7), S. 767 - 775 (2013)
962.
Zeitschriftenartikel
Depienne, C.; Bugiani, M.; Dupuits, C.; Galanaud, D.; Touitou, V.; Postma, N.; van Berkel, C.; Polder, E.; Tollard, E.; Darios, F. et al.; Brice, A.; de Die-Smulders, C. E.; Vles, J. S.; Vanderver, A.; Uziel, G.; Yalcinkaya, C.; Frints, S. G.; Kalscheuer, V. M.; Klooster, J.; Kamermans, M.; Abbink, T. E.; Wolf, N. I.; Sedel, F.; van der Knaap, M. S.: Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical study. Lancet Neurology 12 (7), S. 659 - 668 (2013)
963.
Zeitschriftenartikel
Hendrickx, J. J.; Huyghe, J. R.; Topsakal, V.; Demeester, K.; Wienker, T. F.; Laer, L. V.; Eyken, E. V.; Fransen, E.; Maki-Torkko, E.; Hannula, S. et al.; Parving, A.; Jensen, M.; Tropitzsch, A.; Bonaconsa, A.; Mazzoli, M.; Espeso, A.; Verbruggen, K.; Huyghe, J.; Huygen, P. L.; Kremer, H.; Kunst, S. J.; Diaz-Lacava, A. N.; Steffens, M.; Pyykko, I.; Dhooge, I.; Stephens, D.; Orzan, E.; Pfister, M. H.; Bille, M.; Sorri, M.; Cremers, C. W.; Camp, G. V.; de Heyning, P. V.: Familial aggregation of pure tone hearing thresholds in an aging European population. Otology & neurotology: official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology 34 (5), S. 838 - 844 (2013)
964.
Zeitschriftenartikel
Isrie, M.; Kalscheuer, V. M.; Holvoet, M.; Fieremans, N.; Van Esch, H.; Devriendt, K.: HUWE1 mutation explains phenotypic severity in a case of familial idiopathic intellectual disability. European Journal of Medical Genetics 56 (7), S. 379 - 382 (2013)
965.
Zeitschriftenartikel
Meierhofer, D.; Weidner, C.; Hartmann, L.; Mayr, J. A.; Han, C.-T.; Schroeder, F. C.; Sauer, S.: Protein sets define disease states and predict in vivo effects of drug treatment. Molecular and Cellular Proteomics 12 (7), S. 1965 - 1979 (2013)
966.
Zeitschriftenartikel
Mugal, C. F.; Arndt, P. F.; Ellegren, H.: Twisted signatures of GC-biased gene conversion embedded in an evolutionary stable karyotype. Molecular Biology and Evolution 30 (7), S. 1700 - 1712 (2013)
967.
Zeitschriftenartikel
Göke, J.; Chan, Y. S.; Yan, J. L.; Vingron, M.; Ng, H. H.: Genome-wide Kinase-Chromatin Interactions Reveal the Regulatory Network of ERK Signaling in Human Embryonic Stem Cells. Molecular Cell 50 (6), S. 844 - 855 (2013)
968.
Zeitschriftenartikel
Haddad, D. M.; Vilain, S.; Vos, M.; Esposito, G.; Matta, S.; Kalscheuer, V. M.; Craessaerts, K.; Leyssen, M.; Nascimento, R. M.; Vianna-Morgante, A. M. et al.; De Strooper, B.; Van Esch, H.; Morais, V. A.; Verstreken, P.: Mutations in the intellectual disability gene Ube2a cause neuronal dysfunction and impair parkin-dependent mitophagy. Molecular Cell 50 (6), S. 831 - 843 (2013)
969.
Zeitschriftenartikel
Götschel, F.; Berg, D.; Gruber, W.; Bender, C.; Eberl, M.; Friedel, M.; Sonntag, J.; Rungeler, E.; Hache, H.; Wierling, C. K. et al.; Nietfeld, W.; Lehrach, H.; Frischauf, A.; Schwartz-Albiez, R.; Aberger, F.; Korf, U.: Synergism between Hedgehog-GLI and EGFR Signaling in Hedgehog-Responsive Human Medulloblastoma Cells Induces Downregulation of Canonical Hedgehog-Target Genes and Stabilized Expression of GLI1. PLoS One 8 (6), S. e65403 - e65403 (2013)
970.
Zeitschriftenartikel
Kessler, T.; Hache, H.; Wierling, C.: Integrative analysis of cancer-related signaling pathways. Frontiers in Physiology 4, S. 4:124 - 4:124 (2013)
971.
Zeitschriftenartikel
Pichler, I.; Del Greco, F.; Gögele, M.; Lill, C. M.; Bertram, L.; Do, C. B.; Eriksson, N.; Foroud, T.; Myers, R. H.; Nalls, M. et al.; Keller, M. F.; Benyamin, B.; Whitfield, J. B.; Pramstaller, P. P.; Hicks, A. A.; Thompson, J. R.; Minelli, C.; Consortium, P. G.; Consor, I. P. D. G.; Consor, W. T. C. C.; Consortium, G. I. S.: Serum Iron Levels and the Risk of Parkinson Disease: A Mendelian Randomization Study. PLoS Medicine 10 (6), S. e1001462 - e1001462 (2013)
972.
Zeitschriftenartikel
Viswanathan, J.; Haapasalo, A.; Kurkinen, K. M. A.; Natunen, T.; Makinen, P.; Bertram, L.; Soininen, H.; Tanzi, R. E.; Hiltunen, M.: Ubiquilin-1 Modulates gamma-Secretase-Mediated epsilon-Site Cleavage in Neuronal Cells. Biochemistry 52 (22), S. 3899 - 3912 (2013)
973.
Zeitschriftenartikel
Salih, M. A.; Tzschach, A.; Oystreck, D. T.; Hassan, H. H.; AlDrees, A.; Elmalik, S. A.; El Khashab, H. Y.; Wienker, T. F.; Abu-Amero, K. K.; Bosley, T. M.: A newly recognized autosomal recessive syndrome affecting neurologic function and vision. American Journal of Medical Genetics Part A 161A (6), S. 1207 - 1213 (2013)
974.
Zeitschriftenartikel
Tavernier, G.; Mlody, B.; Demeester, J.; Adjaye, J.; De Smedt, S. C.: Current methods for inducing pluripotency in somatic cells. Advanced Materials 25 (20), S. 2765 - 71 (2013)
975.
Zeitschriftenartikel
Zazzu, V.; Regierer, B.; Kühn, A.; Sudbrak, R.; Lehrach, H.: IT Future of Medicine: from molecular analysis to clinical diagnosis and improved treatment. New Biotechnology 30 (4), S. 362 - 365 (2013)
976.
Zeitschriftenartikel
Holzhauser, S.; Freiwald, A.; Weise, C.; Multhaup, G.; Han, C.-T.; Sauer, S.: Discovery and Characterization of Protein-Modifying Natural Products by MALDI Mass Spectrometry Reveal Potent SIRT1 and p300 Inhibitors. Angewandte Chemie International Edition 52 (19), S. 5171 - 5174 (2013)
977.
Zeitschriftenartikel
Hirata, H.; Nanda, I.; van Riesen, A.; McMichael, G.; Hu, H.; Hambrock, M.; Papon, M. A.; Fischer, U.; Marouillat, S.; Ding, C. et al.; Alirol, S.; Bienek, M.; Preisler-Adams, S.; Grimme, A.; Seelow, D.; Webster, R.; Haan, E.; MacLennan, A.; Stenzel, W.; Yap, T. Y.; Gardner, A.; Nguyen, L. S.; Shaw, M.; Lebrun, N.; Haas, S. A.; Kress, W.; Haaf, T.; Schellenberger, E.; Chelly, J.; Viot, G.; Shaffer, L. G.; Rosenfeld, J. A.; Kramer, N.; Falk, R.; El-Khechen, D.; Escobar, L. F.; Hennekam, R.; Wieacker, P.; Hubner, C.; Ropers, H. H.; Gecz, J.; Schuelke, M.; Laumonnier, F.; Kalscheuer, V. M.: ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity. The American Journal of Human Genetics 92 (5), S. 681 - 695 (2013)
978.
Zeitschriftenartikel
Montgomery, S. B.; Goode, D. L.; Kvikstad, E.; Albers, C. H.; Zhang, Z. D.; Mu, X. J.; Ananda, G.; Howie, B.; Karczewski, K. J.; Smith, K. S. et al.; Anaya, V.; Richardson, R.; Davis, J.; 1000 Genome Project, C.; Timmermann, B.; MacArthur, D. G.; Sidow, A.; Duret, L.; Gerstein, M.; Makova, K. D.; Marchini, J.; McVean, G.; Lunter, G.: The origin, evolution, and functional impact of short insertion-deletion variants identified in 179 human genomes. Genome Research 23 (5), S. 749 - 761 (2013)
979.
Zeitschriftenartikel
Onkes, W.; Fredrik, R.; Micci, F.; Schonbeck, B. J.; Martin-Subero, J. I.; Ullmann, R.; Hilpert, F.; Brautigam, K.; Janssen, O.; Maass, N. et al.; Siebert, R.; Heim, S.; Arnold, N.; Weimer, J.: Breakpoint characterization of the der(19)t(11;19)(q13;p13) in the ovarian cancer cell line SKOV-3. Genes, Chromosomes and Cancer 52 (5), S. 512 - 522 (2013)
980.
Zeitschriftenartikel
Papari, E.; Bastami, M.; Farhadi, A.; Abedini, S.; Hosseini, M.; Bahman, I.; Mohseni, M.; Garshasbi, M.; Moheb, L. A.; Behjati, F. et al.; Kahrizi, K.; Ropers, H.-H.; Najmabadi, H.: Investigation of primary microcephaly in Bushehr province of Iran: novel STIL and ASPM mutations. Clinical Genetics: an international journal of genetics in medicine 83 (5), S. 488 - 490 (2013)
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