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Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficits |
Authors: Horn, D.; Kapeller, J.; Rivera-Brugues, N.; Moog, U.; Lorenz-Depiereux, B.; Eck, S.; Hempel, M.; Wagenstaller, J.; Gawthrope, A.; Monaco, A. P.; Bonin, M.; Riess, O.; Wohlleber, E.; Illig, T.; Bezzina, C. R.; Franke, A.; Spranger, S.; Villavicencio-Lorini, P.; Seifert, W.; Rosenfeld, J.; Klopocki, E.; Rappold, G. A.; Strom, T. M. | Date of Publication (YYYY-MM-DD): 2010-11-01 | Title of Journal: Human Mutation | Volume: 31 | Issue / Number: 11 | Start Page: E1851 | End Page: E1860 | Document Type: Article | ID: 539476.0 |
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Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome. |
Authors: Krawitz, P. M.; Schweiger, M. R.; Rödelsperger, C.; Marcelis, C.; Kölsch, U.; Meisel, C.; Stephani, F.; Kinoshita, T.; Murakami, Y.; Bauer, S.; Isau, M.; Fischer, A.; Dahl, A.; Kerick, M.; Hecht, J.; Köhler, S.; Jager, M.; Grünhagen, J.; de Condor, B. J.; Doelken, S.; Brunner, H. G.; Meinecke, P.; Passarge, E.; Thompson, M. D.; Cole, D. E.; Horn, D.; Roscioli, T.; Mundlos, S.; Robinson, P. N. | Date of Publication (YYYY-MM-DD): 2010-08-29 | Title of Journal: Nature Genetics | Volume: 42 | Issue / Number: 10 | Start Page: 827 | End Page: 829 | Document Type: Article | ID: 539693.0 |
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Analysis of relative gene dosage and expression differences of the paralogs RABL2A and RABL2B by Pyrosequencing. |
Authors: Kramer, M.; Backhaus, O.; Rosenstiel, P.; Horn, D.; Klopocki, E.; Birkenmeier, G.; Schreiber, S.; Platzer, M.; Hampe, J.; Huse, K. | Date of Publication (YYYY-MM-DD): 2010-05-01 | Title of Journal: Gene | Volume: 455 | Issue / Number: 1-2 | Start Page: 1 | End Page: 7 | Document Type: Article | ID: 541483.0 |
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Hyperphosphatasia with mental retardation, brachytelephalangy, and a distinct facial gestalt: Delineation of a recognizable syndrome. |
Authors: Horn, D.; Schottmann, G.; Meinecke, P. | Date of Publication (YYYY-MM-DD): 2010-03-01 | Title of Journal: European Journal of Medical Genetics | Volume: 53 | Issue / Number: 2 | Start Page: 85 | End Page: 88 | Document Type: Article | ID: 541927.0 |
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Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome |
Authors: Seifert, W.; Holder-Espinasse, M.; Spranger, S.; Hoeltzenbein, Maria; Rossier, E.; Dollfus, H.; Lacombe, H.; Verloes, A.; Chrzanowska, K. H.; Maegawa, G. H. B.; Chitayat, D.; Kotzot, D.; Huhle, D.; Meinecke, P.; Albrecht, B.; Mathijssen, I.; Leheup, B.; Raile, K.; Hennies, H. C.; Horn, D. | Date of Publication (YYYY-MM-DD): 2006-01-25 | Title of Journal: Journal of Medical Genetics | Volume: 43 | Issue / Number: 5 | Start Page: e22 | End Page: e22 | Document Type: Article | ID: 308496.0 |
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Can dynamic neural filters produce pseudo-random sequences? |
Authors: Elyada, Y. M.; Horn, D. | Title of Book: ARTIFICIAL NEURAL NETWORKS: BIOLOGICAL INSPIRATIONS - ICANN 2005, PT 1, PROCEEDINGS |
Start Page: 211 | End Page: 216 | Place of Publication: BERLIN | Publisher: SPRINGER-VERLAG BERLIN | Date of Publication (YYYY-MM-DD): 2005 | Document Type: InBook | ID: 246366.0 |
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Nonlinear optical properties of polyelectrolyte thin films containing gold nanoparticles investigated by wavelength dispersive femtosecond degenerate four wave mixing (DFWM). |
Authors: Schrof, W.; Rozouvan, S.; Vankeuren, E.; Horn, D.; Schmitt, J.; Decher, G. | Date of Publication (YYYY-MM-DD): 1998 | Title of Journal: Advanced Materials | Volume: 10 | Start Page: 338 | End Page: 341 | Document Type: Article | ID: 292839.0 |
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Chemical imaging of single polyethylenimine polymers |
Authors: Akari, S.; Schrepp, W.; Horn, D. | Date of Publication (YYYY-MM-DD): 1996 | Title of Journal: Berichte der Bunsen-Gesellschaft-Physical Chemistry Chemical Physics | Volume: 100 | Start Page: 1014 | End Page: 1016 | Document Type: Article | ID: 374130.0 |
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Imaging of single polyethylenimine polymers adsorbed on negatively charged latex spheres by chemical force microscopy |
Authors: Akari, S.; Schrepp, W.; Horn, D. | Date of Publication (YYYY-MM-DD): 1996 | Title of Journal: Langmuir | Volume: 12 | Start Page: 857 | End Page: 860 | Document Type: Article | ID: 376514.0 |
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