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Results: 1-8 |
Results: 8
Rescue of a telomere length defect of Nijmegen breakage syndrome cells requires NBS and telomerase catalytic subunit
Authors: Ranganathan, V Heine, WF Ciccone, DN Rudolph, KL Wu, XH Chang, S Hai, H Ahearn, IM Livingston, DM Resnick, I Rosen, F Seemanova, E Jarolim, P DePinho, RA Weaver, DT
Citation: V. Ranganathan et al., Rescue of a telomere length defect of Nijmegen breakage syndrome cells requires NBS and telomerase catalytic subunit, CURR BIOL, 11(12), 2001, pp. 962-966
Gene encoding a new RING-B-box-Coiled-coil protein is mutated in mulibrey nanism
Authors: Avela, K Lipsanen-Nyman, M Idanheimo, N Seemanova, E Rosengren, S Makela, TP Perheentupa, J de la Chapelle, A Lehesjoki, AE
Citation: K. Avela et al., Gene encoding a new RING-B-box-Coiled-coil protein is mutated in mulibrey nanism, NAT GENET, 25(3), 2000, pp. 298-301
Clinical ascertainment of Nijmegen breakage syndrome (NBS) and prevalence of the major mutation, 657de15, in three Slav populations
Authors: Varon, R Seemanova, E Chrzanowska, K Hnateyko, O Piekutowska-Abramczuk, D Krajewska-Walasek, M Sykut-Cegielska, J Sperling, K Reis, A
Citation: R. Varon et al., Clinical ascertainment of Nijmegen breakage syndrome (NBS) and prevalence of the major mutation, 657de15, in three Slav populations, EUR J HUM G, 8(11), 2000, pp. 900-902
Nijmegen breakage syndrome
Authors: Hiel, JA Weemaes, CM van den Heuvel, LP van Engelen, BG Gabreels, FJ Smeets, DF van der Burgt, I Chrzanovska, KH Bernatowska, E Krajewska-Walasek, M Bialecka, M Abramczuk, D Gregorek, H Michalkiewicz, I Perek, D Midro, AT Seemanova, E Belohradsky, BH Solder, B Barbi, G Wegner, RD Sperling, K Dixon, J Maraschio, P Marseglia, GL Green, A Taylor, AM Der Kaloustian, VM Komatsu, K Matsuura, S Conley, ME Concannon, P Gatti, RA
Citation: Ja. Hiel et al., Nijmegen breakage syndrome, ARCH DIS CH, 82(5), 2000, pp. 400-406
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 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
Mulibrey nanism and Wilms tumor
Authors: Seemanova, E Bartsch, O
Citation: E. Seemanova et O. Bartsch, Mulibrey nanism and Wilms tumor, AM J MED G, 85(1), 1999, pp. 76-78
Molecular analysis of SALL1 mutations in Townes-Brocks syndrome
Authors: Kohlhase, J Taschner, PEM Burfeind, P Pasche, B Newman, B Blanck, C Breuning, MH ten Kate, LP Maaswinkel-Mooy, P Mitulla, B Seidel, J Kirkpatrick, SJ Pauli, RM Wargowski, DS Devriendt, K Proesmans, W Gabrielli, O Coppa, GV Wesby-van Swaay, E Trembath, RC Schinzel, AA Reardon, W Seemanova, E Engel, W
Citation: J. Kohlhase et al., Molecular analysis of SALL1 mutations in Townes-Brocks syndrome, AM J HU GEN, 64(2), 1999, pp. 435-445
Risultati: 1-8 |