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Results: 1-8 |
Results: 8
Functional hemizygosity of PAFAH1B3 due to a PAFAH1B3-CLK2 fusion gene in a female with mental retardation, ataxia and atrophy of the brain
Authors: Nothwang, HG Kim, HG Aoki, J Geisterfer, M Kubart, S Wegner, RD van Moers, A Ashworth, LK Haaf, T Bell, J Arai, H Tommerup, N Ropers, HH Wirth, J
Citation: Hg. Nothwang et al., Functional hemizygosity of PAFAH1B3 due to a PAFAH1B3-CLK2 fusion gene in a female with mental retardation, ataxia and atrophy of the brain, HUM MOL GEN, 10(8), 2001, pp. 797-806
Prenatal diagnosis of familial absent pulmonary valve syndrome: case report and review of the literature
Authors: Becker, R Schmitz, L Guschmann, M Wegner, RD Stiemer, B Entezami, M
Citation: R. Becker et al., Prenatal diagnosis of familial absent pulmonary valve syndrome: case report and review of the literature, ULTRASOUN O, 17(3), 2001, pp. 263-267
Comparative genomic hybridization based strategy for the analysis of different chromosome imbalances detected in conventional cytogenetic diagnostics
Authors: Tonnies, H Stumm, M Wegner, RD Chudoba, I Kalscheuer, V Neitzel, H
Citation: H. Tonnies et al., Comparative genomic hybridization based strategy for the analysis of different chromosome imbalances detected in conventional cytogenetic diagnostics, CYTOG C GEN, 93(3-4), 2001, pp. 188-194
High frequency of spontaneous translocations revealed by FISH in cells from patients with the cancer-prone syndromes ataxia telangiectasia and Nijmegen breakage syndrome
Authors: Stumm, M Neubauer, S Keindorff, S Wegner, RD Wieacker, P Sauer, R
Citation: M. Stumm et al., High frequency of spontaneous translocations revealed by FISH in cells from patients with the cancer-prone syndromes ataxia telangiectasia and Nijmegen breakage syndrome, CYTOG C GEN, 92(3-4), 2001, pp. 186-191
Clinical variability of Larsen syndrome: diagnosis in a father after sonographic detection of a severely affected fetus
Authors: Becker, R Wegner, RD Kunze, J Runkel, S Vogel, M Entezami, M
Citation: R. Becker et al., Clinical variability of Larsen syndrome: diagnosis in a father after sonographic detection of a severely affected fetus, CLIN GENET, 57(2), 2000, pp. 148-150
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
Characterization of ATM gene mutations in 66 ataxia telangiectasia families
Authors: Sandoval, N Platzer, M Rosenthal, A Dork, T Bendix, R Skawran, B Stuhrmann, M Wegner, RD Sperling, K Banin, S Shiloh, Y Baumer, A Bernthaler, U Sennefelder, H Brohm, M Weber, BHF Schindler, D
Citation: N. Sandoval et al., Characterization of ATM gene mutations in 66 ataxia telangiectasia families, HUM MOL GEN, 8(1), 1999, pp. 69-79
The Fanconi anemia group E gene, FANCE, maps to chromosome 6p
Authors: Waisfisz, Q Saar, K Morgan, NV Altay, C Leegwater, PA de Winter, JP Komatsu, K Evans, GR Wegner, RD Reis, A Joenje, H Arwert, F Mathew, CG Pronk, JC Digweed, M
Citation: Q. Waisfisz et al., The Fanconi anemia group E gene, FANCE, maps to chromosome 6p, AM J HU GEN, 64(5), 1999, pp. 1400-1405
Risultati: 1-8 |