Journal Article (123)

41.
Journal Article
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), pp. 838 - 844 (2013)
42.
Journal Article
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), pp. 379 - 382 (2013)
43.
Journal Article
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), pp. 1965 - 1979 (2013)
44.
Journal Article
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), pp. 1700 - 1712 (2013)
45.
Journal Article
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), pp. 844 - 855 (2013)
46.
Journal Article
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), pp. 831 - 843 (2013)
47.
Journal Article
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), p. e65403 - e65403 (2013)
48.
Journal Article
Kessler, T.; Hache, H.; Wierling, C.: Integrative analysis of cancer-related signaling pathways. Frontiers in Physiology 4, p. 4:124 - 4:124 (2013)
49.
Journal Article
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), p. e1001462 - e1001462 (2013)
50.
Journal Article
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), pp. 3899 - 3912 (2013)
51.
Journal Article
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), pp. 1207 - 1213 (2013)
52.
Journal Article
Tavernier, G.; Mlody, B.; Demeester, J.; Adjaye, J.; De Smedt, S. C.: Current methods for inducing pluripotency in somatic cells. Advanced Materials 25 (20), pp. 2765 - 71 (2013)
53.
Journal Article
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), pp. 362 - 365 (2013)
54.
Journal Article
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), pp. 5171 - 5174 (2013)
55.
Journal Article
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), pp. 681 - 695 (2013)
56.
Journal Article
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), pp. 749 - 761 (2013)
57.
Journal Article
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), pp. 512 - 522 (2013)
58.
Journal Article
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), pp. 488 - 490 (2013)
59.
Journal Article
Starokadomskyy, P.; Gluck, N.; Li, H.; Chen, B.; Wallis, M.; Maine, G. N.; Mao, X.; Zaidi, I. W.; Hein, M. Y.; McDonald, F. J. et al.; Lenzner, S.; Zecha, A.; Ropers, H. H.; Kuss, A. W.; McGaughran, J.; Gecz, J.; Burstein, E.: CCDC22 deficiency in humans blunts activation of proinflammatory NF-kappaB signaling. The Journal of Clinical Investigation 123 (5), pp. 2244 - 2256 (2013)
60.
Journal Article
Gilling, M.; Rasmussen, H. B.; Calloe, K.; Sequeira, A. F.; Baretto, M.; Oliveira, G.; Almeida, J.; Lauritsen, M. B.; Ullmann, R.; Boonen, S. E. et al.; Brondum-Nielsen, K.; Kalscheuer, V. M.; Tumer, Z.; Vicente, A. M.; Schmitt, N.; Tommerup, N.: Dysfunction of the Heteromeric KV7.3/KV7.5 Potassium Channel is Associated with Autism Spectrum Disorders. Frontiers in Genetics 4, p. 4:54 - 4:54 (2013)
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