Journal Article (51)

41.
Journal Article
Rump, P.; Jongbloed, J. D.; Sikkema-Raddatz, B.; Mundlos, S.; Klopocki, E.; van der Luijt, R. B.: Madelung deformity in a girl with a novel and de novo mutation in the GNAS gene. Am J Med Genet A 155A (10), pp. 2566 - 70 (2011)
42.
Journal Article
Rybczynski, M.; Treede, H.; Sheikhzadeh, S.; Groene, E. F.; Bernhardt, A. M.; Hillebrand, M.; Mir, T. S.; Kuhne, K.; Koschyk, D.; Robinson, P. N. et al.; Berger, J.; Reichenspurner, H.; Meinertz, T.; von Kodolitsch, Y.: Predictors of outcome of mitral valve prolapse in patients with the Marfan syndrome. Am J Cardiol 107 (2), pp. 268 - 74 (2011)
43.
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Schulz, M. H.; Kohler, S.; Bauer, S.; Robinson, P. N.: Exact score distribution computation for ontological similarity searches. BMC Bioinformatics 12, p. 441 (2011)
44.
Journal Article
Sheikhzadeh, S.; Rybczynski, M.; Habermann, C. R.; Bernhardt, A. M.; Arslan-Kirchner, M.; Keyser, B.; Kaemmerer, H.; Mir, T. S.; Staebler, A.; Oezdal, N. et al.; Robinson, P. N.; Berger, J.; Meinertz, T.; von Kodolitsch, Y.: Dural ectasia in individuals with Marfan-like features but exclusion of mutations in the genes FBN1, TGFBR1 and TGFBR2. Clin Genet 79 (6), pp. 568 - 74 (2011)
45.
Journal Article
Skidmore, D. L.; Chitayat, D.; Morgan, T.; Hinek, A.; Fischer, B.; Dimopoulou, A.; Somers, G.; Halliday, W.; Blaser, S.; Diambomba, Y. et al.; Lemire, E. G.; Kornak, U.; Robertson, S. P.: Further expansion of the phenotypic spectrum associated with mutations in ALDH18A1, encoding Delta(1)-pyrroline-5-carboxylate synthase (P5CS). Am J Med Genet A 155A (8), pp. 1848 - 56 (2011)
46.
Journal Article
Spielmann, M.; Reichelt, G.; Hertzberg, C.; Trimborn, M.; Mundlos, S.; Horn, D.; Klopocki, E.: Homozygous deletion of chromosome 15q13.3 including CHRNA7 causes severe mental retardation, seizures, muscular hypotonia, and the loss of KLF13 and TRPM1 potentially cause macrocytosis and congenital retinal dysfunction in siblings. Eur J Med Genet 54 (4), pp. e441 - 5 (2011)
47.
Journal Article
Stricker, S.; Mathia, S.; Haupt, J.; Seemann, P.; Meier, J.; Mundlos, S.: Odd-Skipped Related Genes Regulate Differentiation of Embryonic Limb Mesenchyme and Bone Marrow Mesenchymal Stromal Cells. Stem Cells Dev (2011)
48.
Journal Article
Stricker, S.; Mundlos, S.: FGF and ROR2 receptor tyrosine kinase signaling in human skeletal development. Curr Top Dev Biol 97, pp. 179 - 206 (2011)
49.
Journal Article
Stricker, S.; Mundlos, S.: Mechanisms of digit formation: Human malformation syndromes tell the story. Dev Dyn 240 (5), pp. 990 - 1004 (2011)
50.
Journal Article
Turkmen, S.; Riehn, M.; Klopocki, E.; Molkentin, M.; Reinhardt, R.; Burmeister, T.: A BACH2-BCL2L1 fusion gene resulting from a t(6;20)(q15;q11.2) chromosomal translocation in the lymphoma cell line BLUE-1. Genes Chromosomes Cancer 50 (6), pp. 389 - 96 (2011)
51.
Journal Article
Warman, M. L.; Cormier-Daire, V.; Hall, C.; Krakow, D.; Lachman, R.; LeMerrer, M.; Mortier, G.; Mundlos, S.; Nishimura, G.; Rimoin, D. L. et al.; Robertson, S.; Savarirayan, R.; Sillence, D.; Spranger, J.; Unger, S.; Zabel, B.; Superti-Furga, A.: Nosology and classification of genetic skeletal disorders: 2010 revision. Am J Med Genet A 155A (5), pp. 943 - 68 (2011)

Thesis - PhD (3)

52.
Thesis - PhD
Forler, S.: Effekte von Polymorphysmen auf die geschlechtsspezifische Proteinexpression in gesunden und hüpertrophierten Herzen. Dissertation (2011)
53.
Thesis - PhD
Rödelsperger, C.: Computational Characterization of Genome-wide DNA-binding Pro les. Dissertation, Freie Universität Berlin, Berlin (2011)
54.
Thesis - PhD
Bauer, S.: Algorithms for Knoledge Integration in Biomedical Sciences. Dissertation (2011)

Thesis - Diploma (1)

55.
Thesis - Diploma
Kraft, K.: Polarität von Chondrozyten in den Extremitäten der Hoxd13 Mausmutante synpolydactyly homolog (spdh). Diploma, Technische Universität, Berlin (2011)

Thesis - Master (1)

56.
Thesis - Master
Altmeyer, S.: Analyse der BMP Signalwege in Mausmodellen. Master, Freie Universität, Berlin (2011)
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