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Results: 1-7 |
Results: 7
Mutation spectrum in patients with Rett syndrome in the German population:Evidence of hot spot regions
Authors: Laccone, F Huppke, P Hanefeld, F Meins, M
Citation: F. Laccone et al., Mutation spectrum in patients with Rett syndrome in the German population:Evidence of hot spot regions, HUM MUTAT, 17(3), 2001, pp. 183-190
Identification of three novel mutations in the USH1C gene and detection ofthirty-one polymorphisms used for haplotype analysis
Authors: Zwaenepoel, I Verpy, E Blanchard, S Meins, M Apfelstedt-Sylla, E Gal, A Petit, C
Citation: I. Zwaenepoel et al., Identification of three novel mutations in the USH1C gene and detection ofthirty-one polymorphisms used for haplotype analysis, HUM MUTAT, 17(1), 2001, pp. 34-41
Progressive neuronal and motor dysfunction in mice overexpressing the serine protease inhibitor protease nexin-1 in postmitotic neurons
Authors: Meins, M Piosik, P Schaeren-Wiemers, N Franzoni, S Troncoso, E Kiss, JZ Brosamle, C Schwab, ME Molnar, Z Monard, D
Citation: M. Meins et al., Progressive neuronal and motor dysfunction in mice overexpressing the serine protease inhibitor protease nexin-1 in postmitotic neurons, J NEUROSC, 21(22), 2001, pp. 8830-8841
MECP2 mutations in sporadic cases of Rett syndrome are almost exclusively of paternal origin
Authors: Trappe, R Laccone, F Cobilanschi, J Meins, M Huppke, P Hanefeld, F Engel, W
Citation: R. Trappe et al., MECP2 mutations in sporadic cases of Rett syndrome are almost exclusively of paternal origin, AM J HU GEN, 68(5), 2001, pp. 1093-1101
Characterization of the human TBX20 gene, a new member of the T-box gene family closely related to the Drosophila H15 gene
Authors: Meins, M Henderson, DJ Bhattacharya, SS Sowden, JC
Citation: M. Meins et al., Characterization of the human TBX20 gene, a new member of the T-box gene family closely related to the Drosophila H15 gene, GENOMICS, 67(3), 2000, pp. 317-332
Twelve novel myosin VIIA mutations in 34 patients with Usher syndrome typeI: Confirmation of genetic heterogeneity
Authors: Janecke, AR Meins, M Sadeghi, M Grundmann, K Apfelstedt-Sylla, E Zrenner, E Rosenberg, T Gal, A
Citation: Ar. Janecke et al., Twelve novel myosin VIIA mutations in 34 patients with Usher syndrome typeI: Confirmation of genetic heterogeneity, HUM MUTAT, 13(2), 1999, pp. 133-140
Double bilateral insult of the posterior cerebral arteries
Authors: Meins, M Skalej, M Pohl, U Bahr, M Schiefer, U
Citation: M. Meins et al., Double bilateral insult of the posterior cerebral arteries, OPHTHALMOLO, 96(3), 1999, pp. 212-213
Risultati: 1-7 |