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Results: 1-14 |
Results: 14
Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure
Authors: Birkenhager, R Otto, E Schurmann, MJ Vollmer, M Ruf, EM Maier-Lutz, I Beekmann, F Fekete, A Omran, H Feldmann, D Milford, DV Jeck, N Konrad, M Landau, D Knoers, NVAM Antignac, C Sudbrak, R Kispert, A Hildebrandt, F
Citation: R. Birkenhager et al., Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure, NAT GENET, 29(3), 2001, pp. 310-314
Spectrum of CFTR mutations in cystic fibrosis and in congenital absence ofthe vas deferens in France
Authors: Claustres, M Guittard, C Bozon, D Chevalier, F Verlingue, C Ferec, C Girodon, E Cazeneuve, C Bienvenu, T Lalau, G Dumur, V Feldmann, D Bieth, E Blayau, M Clavel, C Creveaux, I Malinge, MC Monnier, N Malzac, P Mittre, H Chomel, JC Bonnefont, JP Iron, A Chery, M Des Georges, M
Citation: M. Claustres et al., Spectrum of CFTR mutations in cystic fibrosis and in congenital absence ofthe vas deferens in France, HUM MUTAT, 16(2), 2000, pp. 143-156
Mutations in the chloride channel gene CLCNKB as a cause of classic Bartter syndrome
Authors: Konrad, M Vollmer, M Lemmink, HH Van den Heuvel, LPWJ Jeck, N Vargas-Poussou, R Lakings, A Ruf, R Deschenes, G Antignac, C Guay-Woodford, L Knoers, NVAM Seyberth, HW Feldmann, D Hildebrandt, F
Citation: M. Konrad et al., Mutations in the chloride channel gene CLCNKB as a cause of classic Bartter syndrome, J AM S NEPH, 11(8), 2000, pp. 1449-1459
Antenatal Bartter syndrome with sensorineural deafness: refinement of the locus on chromosome 1p31
Authors: Vollmer, M Jeck, N Lemmink, HH Vargas, R Feldmann, D Konrad, M Beekmann, F van den Heuvel, LPWJ Deschenes, G Guay-Woodford, LM Antignac, C Seyberth, HW Hildebrandt, F Knoers, NVAM
Citation: M. Vollmer et al., Antenatal Bartter syndrome with sensorineural deafness: refinement of the locus on chromosome 1p31, NEPH DIAL T, 15(7), 2000, pp. 970-974
Clinical presentation, immunohistologic features, molecular confirmation, and prenatal diagnosis of surfactant protein B (SP-B) deficiency.
Authors: Tredano, M Cneude, F Denamur, E Truffert, P Capron, F Manouvrier, S Feldmann, D Couderc, R Elion, J Lacaze-Masmonteil, T
Citation: M. Tredano et al., Clinical presentation, immunohistologic features, molecular confirmation, and prenatal diagnosis of surfactant protein B (SP-B) deficiency., ARCH PED, 7(6), 2000, pp. 641-644
Death and the mother from Dickens to Freud: Victorian fiction and the anxiety of origins
Authors: Feldmann, D
Citation: D. Feldmann, Death and the mother from Dickens to Freud: Victorian fiction and the anxiety of origins, ANGLIA, 118(3), 2000, pp. 464-467
'A-revolution-in-sentiments,-manners-,-and-moral-opinions': Catherine Macaulay and the political culture of English Radicalism, 1760-1790
Authors: Feldmann, D Habermann, I
Citation: D. Feldmann et I. Habermann, 'A-revolution-in-sentiments,-manners-,-and-moral-opinions': Catherine Macaulay and the political culture of English Radicalism, 1760-1790, Z ANGLIS AM, 48(1), 2000, pp. 80-82
Genotype analysis and phenotypic manifestations of children with intermediate sweat chloride test results
Authors: Desmarquest, P Feldmann, D Tamalat, A Boule, M Fauroux, B Tournier, G Clement, A
Citation: P. Desmarquest et al., Genotype analysis and phenotypic manifestations of children with intermediate sweat chloride test results, CHEST, 118(6), 2000, pp. 1591-1597
Improved fluorescent PCR-based assay for sizing CGG repeats at the FRAXA locus
Authors: Houdayer, C Lemonnier, A Gerard, M Chauve, C Tredano, M de Villemeur, TB Aymard, P Bonnefont, JP Feldmann, D
Citation: C. Houdayer et al., Improved fluorescent PCR-based assay for sizing CGG repeats at the FRAXA locus, CLIN CH L M, 37(4), 1999, pp. 397-401
Towards a 'natural' narratology
Authors: Feldmann, D
Citation: D. Feldmann, Towards a 'natural' narratology, ANGLIA, 117(3), 1999, pp. 450-453
Linkage analysis of 5 novel van der Woude syndrome kindreds to 1q32-q41 markers further supports locus homogeneity of the disease trait
Authors: Houdayer, C Soupre, V Rosenberg-Bourgin, M Martinez, H Tredano, M Feldmann, D Feingold, J Aymard, P Munnich, A Le Bouc, Y Vazquez, MP Bahuau, M
Citation: C. Houdayer et al., Linkage analysis of 5 novel van der Woude syndrome kindreds to 1q32-q41 markers further supports locus homogeneity of the disease trait, ANN GENET, 42(2), 1999, pp. 69-74
Molecular basis of cystic fibrosis in France: more than 300 different mutations and 506 genotypes are involved
Authors: Des Georges, M Guittard, C Bozon, D Chevalier, F Verlingue, C Ferec, C Girodon, E Cazeneuve, C Bienvenu, T Lalau, G Dumur, V Feldmann, D Bieth, E Blayau, M Clavel, C Creveaux, I Malinge, MC Monnier, N Malzac, P Mittre, H Bonnefont, JP Iron, A Chomel, JC Chery, M Claustres, M
Citation: M. Des Georges et al., Molecular basis of cystic fibrosis in France: more than 300 different mutations and 506 genotypes are involved, M S-MED SCI, 14(12), 1998, pp. 1413-1421
Telling histories. Narrativizing history, historicizing literature
Authors: Feldmann, D
Citation: D. Feldmann, Telling histories. Narrativizing history, historicizing literature, ARCH STUD N, 235(2), 1998, pp. 366-369
Historicism
Authors: Feldmann, D
Citation: D. Feldmann, Historicism, ARCH STUD N, 235(2), 1998, pp. 366-369
Risultati: 1-14 |