AAAAAA

   
Results: 1-19 |
Results: 19
Diagnosis of X-linked myotubular myopathy by detection of myotubularin
Authors: Laporte, J Kress, W Mandel, JL
Citation: J. Laporte et al., Diagnosis of X-linked myotubular myopathy by detection of myotubularin, ANN NEUROL, 50(1), 2001, pp. 42-46
Thirty-seven CAG repeats in the androgen receptor gene in two healthy individuals
Authors: Kuhlenbaumer, G Kress, W Ringelstein, EB Stogbauer, F
Citation: G. Kuhlenbaumer et al., Thirty-seven CAG repeats in the androgen receptor gene in two healthy individuals, J NEUROL, 248(1), 2001, pp. 23-26
Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9
Authors: Liquori, CL Ricker, K Moseley, ML Jacobsen, JF Kress, W Naylor, SL Day, JW Ranum, LPW
Citation: Cl. Liquori et al., Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9, SCIENCE, 293(5531), 2001, pp. 864-867
MTM1 mutations in X-linked myotubular myopathy
Authors: Laporte, J Biancalana, V Tanner, SM Kress, W Schneider, V Wallgren-Pettersson, C Herger, F Buj-Bello, A Blondeau, F Liechti-Gallati, S Mandel, JL
Citation: J. Laporte et al., MTM1 mutations in X-linked myotubular myopathy, HUM MUTAT, 15(5), 2000, pp. 393-409
Proof of genetic heterogeneity in the proximal myotonic myopathy syndrome (PROMM) and its relationship to myotonic dystrophy type 2 (DM2)
Authors: Kress, W Mueller-Myhsok, B Ricker, K Schneider, C Koch, MC Toyka, KV Mueller, CR Grimm, T
Citation: W. Kress et al., Proof of genetic heterogeneity in the proximal myotonic myopathy syndrome (PROMM) and its relationship to myotonic dystrophy type 2 (DM2), NEUROMUSC D, 10(7), 2000, pp. 478-480
Hyperparathyroidism in a patient with proximal myotonic myopathy (PROMM)
Authors: Schneider, C Grimm, T Kress, W Sommer, C Muller, CR
Citation: C. Schneider et al., Hyperparathyroidism in a patient with proximal myotonic myopathy (PROMM), NEUROMUSC D, 10(7), 2000, pp. 481-483
Clustering of FGFR2 gene mutations in patients with Pfeiffer and Crouzon syndromes (FGFR2-associated craniosynostoses)
Authors: Kress, W Collmann, H Busse, M Halliger-Keller, B Mueller, CR
Citation: W. Kress et al., Clustering of FGFR2 gene mutations in patients with Pfeiffer and Crouzon syndromes (FGFR2-associated craniosynostoses), CYTOG C GEN, 91(1-4), 2000, pp. 134-137
An unusual FGFR1 mutation (fibroblast growth factor receptor 1 mutation) in a girl with non-syndromic trigonocephaly
Authors: Kress, W Petersen, B Collmann, H Grimm, T
Citation: W. Kress et al., An unusual FGFR1 mutation (fibroblast growth factor receptor 1 mutation) in a girl with non-syndromic trigonocephaly, CYTOG C GEN, 91(1-4), 2000, pp. 138-140
Surface lattice dynamics of Mg(0001)
Authors: Ismail,"Hofmann, P Plummer, EW Bungaro, C Kress, W
Citation: P. Ismail,"hofmann et al., Surface lattice dynamics of Mg(0001), PHYS REV B, 62(24), 2000, pp. 17012-17019
Proximal myotonic myopathy - Evidence for anticipation in families with linkage to chromosome 3q
Authors: Schneider, C Ziegler, A Ricker, K Grimm, T Kress, W Reimers, CD Meinck, HM Reiners, K Toyka, KV
Citation: C. Schneider et al., Proximal myotonic myopathy - Evidence for anticipation in families with linkage to chromosome 3q, NEUROLOGY, 55(3), 2000, pp. 383-388
Oculopharyngeal muscular dystrophy. Genetic diagnosis in a German family
Authors: Mohammadi, B Bufler, J Kress, W Brandis, A Walter, GF Dengler, R Heidenreich, F
Citation: B. Mohammadi et al., Oculopharyngeal muscular dystrophy. Genetic diagnosis in a German family, NERVENARZT, 71(12), 2000, pp. 1003-1006
Allelic heterogeneity of alkaptonuria in Central Europe
Authors: Muller, CR Fregin, A Srsen, S Srsnova, K Halliger-Keller, B Felbor, U Seemanova, E Kress, W
Citation: Cr. Muller et al., Allelic heterogeneity of alkaptonuria in Central Europe, EUR J HUM G, 7(6), 1999, pp. 645-651
The genetic defect of the alkaptonuric mouse (aku)
Authors: Kress, W Schmidt, SR Halliger-Keller, B Montagutelli, X Muller, CR
Citation: W. Kress et al., The genetic defect of the alkaptonuric mouse (aku), MAMM GENOME, 10(1), 1999, pp. 68-70
Interleukin-1 haplotype and periodontal disease progression following therapy
Authors: Ehmke, B Kress, W Karch, H Grimm, T Klaiber, B Flemmig, TF
Citation: B. Ehmke et al., Interleukin-1 haplotype and periodontal disease progression following therapy, J CLIN PER, 26(12), 1999, pp. 810-813
The novel contiguous gene syndrome of myotubular myopathy (MTM1), male hypogenitalism and deletion in Xq28: report of the first familial case
Authors: Bartsch, O Kress, W Wagner, A Seemanova, E
Citation: O. Bartsch et al., The novel contiguous gene syndrome of myotubular myopathy (MTM1), male hypogenitalism and deletion in Xq28: report of the first familial case, CYTOG C GEN, 85(3-4), 1999, pp. 310-314
Distribution of emerin during the cell cycle
Authors: Dabauvalle, MC Muller, E Ewald, A Kress, W Krohne, G Muller, CR
Citation: Mc. Dabauvalle et al., Distribution of emerin during the cell cycle, EUR J CELL, 78(10), 1999, pp. 749-756
Linkage of proximal myotonic myopathy to chromosome 3q
Authors: Ricker, K Grimm, T Koch, MC Schneider, C Kress, W Reimers, CD Schulte-Mattler, W Mueller-Myhsok, B Toyka, KV Mueller, CR
Citation: K. Ricker et al., Linkage of proximal myotonic myopathy to chromosome 3q, NEUROLOGY, 52(1), 1999, pp. 170-171
Diagnostic approach to muscular dystrophies - recent developments and casereports
Authors: Weilbach, FX Kress, W Strassburg, HM Muller, CR Gold, R
Citation: Fx. Weilbach et al., Diagnostic approach to muscular dystrophies - recent developments and casereports, NERVENARZT, 70(2), 1999, pp. 89-100
Ocular ochronosis in alkaptonuria patients carrying mutations in the homogentisate 1,2-dioxygenase gene
Authors: Felbor, U Mutsch, Y Grehn, F Muller, CR Kress, W
Citation: U. Felbor et al., Ocular ochronosis in alkaptonuria patients carrying mutations in the homogentisate 1,2-dioxygenase gene, BR J OPHTH, 83(6), 1999, pp. 680-683
Risultati: 1-19 |