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Results: 1-8 |
Results: 8
Molecular analysis of MVK mutations and enzymatic activity in hyper-IgD and periodic fever syndrome
Authors: Cuisset, L Drenth, JP Simon, A Vincent, MF Visser, SV van der Meer, JWM Grateau, G Delpech, M
Citation: L. Cuisset et al., Molecular analysis of MVK mutations and enzymatic activity in hyper-IgD and periodic fever syndrome, EUR J HUM G, 9(4), 2001, pp. 260-266
Molecular analysis of the mevalonate kinase gene in a cohort of patients with the hyper-IgD and periodic fever syndrome: Its application as a diagnostic tool
Authors: Simon, A Cuisset, L Vincent, MF van der Velde-Visser, SD Delpech, M van der Meer, JWM Drenth, JPH
Citation: A. Simon et al., Molecular analysis of the mevalonate kinase gene in a cohort of patients with the hyper-IgD and periodic fever syndrome: Its application as a diagnostic tool, ANN INT MED, 135(5), 2001, pp. 338-343
Establishment of the paternal methylation imprint of the human H19 and MEST/PEG1 genes during spermatogenesis
Authors: Kerjean, A Dupont, JM Vasseur, C Le Tessier, D Cuisset, L Paldi, A Jouannet, P Jeanpierre, M
Citation: A. Kerjean et al., Establishment of the paternal methylation imprint of the human H19 and MEST/PEG1 genes during spermatogenesis, HUM MOL GEN, 9(14), 2000, pp. 2183-2187
Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome
Authors: Drenth, JPH Cuisset, L Grateau, G Vasseur, C van de Velde-Visser, SD de Jong, JGN Beckmann, JS van der Meer, JWM Delpech, M
Citation: Jph. Drenth et al., Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome, NAT GENET, 22(2), 1999, pp. 178-181
Unexpected Angelman syndrome molecular defect in a girl displaying clinical features of Prader-Willi syndrome
Authors: Dupont, JM Le Tessier, D Rabineau, D Cuisset, L Vasseur, C Jeanpierre, M Delpech, M Pinton, F Ponsot, G Denavit, MF
Citation: Jm. Dupont et al., Unexpected Angelman syndrome molecular defect in a girl displaying clinical features of Prader-Willi syndrome, J MED GENET, 36(8), 1999, pp. 652-654
Quantitative analysis of histone H1 degrees protein synthesis in HTC cells
Authors: Cuisset, L Tichonicky, L Delpech, M
Citation: L. Cuisset et al., Quantitative analysis of histone H1 degrees protein synthesis in HTC cells, EUR J BIOCH, 261(3), 1999, pp. 593-598
Genetic linkage of the Muckle-Wells syndrome to chromosome 1q44
Authors: Cuisset, L Drenth, JPH Berthelot, JM Meyrier, A Vaudour, G Watts, RA Scott, DGI Nicholls, A Pavek, S Vasseur, C Beckmann, JS Delpech, M Grateau, G
Citation: L. Cuisset et al., Genetic linkage of the Muckle-Wells syndrome to chromosome 1q44, AM J HU GEN, 65(4), 1999, pp. 1054-1059
Potential pitfall in Prader-Willi syndrome and Angelman syndrome moleculardiagnosis
Authors: Cuisset, L Vasseur, C Jeanpierre, M Delpech, M Noseda, G Ponsot, G
Citation: L. Cuisset et al., Potential pitfall in Prader-Willi syndrome and Angelman syndrome moleculardiagnosis, AM J MED G, 80(5), 1998, pp. 543-545
Risultati: 1-8 |