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Results: 1-7 |
Results: 7
CFTR gene analysis in 207 patients with cystic fibrosis in southwest France: high frequency of N1303K and 1811+1.6kbA > G mutations.
Authors: Federici, S Iron, A Reboul, MP Desgeorges, M Claustres, M Bremont, F Bieth, E
Citation: S. Federici et al., CFTR gene analysis in 207 patients with cystic fibrosis in southwest France: high frequency of N1303K and 1811+1.6kbA > G mutations., ARCH PED, 8(2), 2001, pp. 150-157
A molecular approach to dominance in hypophosphatasia
Authors: Lia-Baldini, AS Muller, F Taillandier, A Gibrat, JF Mouchard, M Robin, B Simon-Bouy, B Serre, JL Aylsworth, AS Bieth, E Delanote, S Freisinger, P Hu, JCC Krohn, HP Nunes, ME Mornet, E
Citation: As. Lia-baldini et al., A molecular approach to dominance in hypophosphatasia, HUM GENET, 109(1), 2001, pp. 99-108
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
Evaluation of cutaneous modifications in seventy-seven growth hormone-deficient children
Authors: Conte, F Diridollou, S Jouret, B Turlier, V Charveron, M Gall, Y Rochiccioli, P Bieth, E Tauber, M
Citation: F. Conte et al., Evaluation of cutaneous modifications in seventy-seven growth hormone-deficient children, HORMONE RES, 54(2), 2000, pp. 92-97
Pure seminoma in a male phenotype 46,XX true hermaphrodite
Authors: Malavaud, B Mazerolles, C Bieth, E Chevreau, C Le Frere, MA Alric, L
Citation: B. Malavaud et al., Pure seminoma in a male phenotype 46,XX true hermaphrodite, J UROL, 164(1), 2000, pp. 125-126
Congenital bilateral absence of the vas deferens: clinical characteristics, biological parameters, cystic fibrosis transmembrane conductance regulator gene mutations, and implications for genetic counseling
Authors: Daudin, M Bieth, E Bujan, L Massat, G Pontonnier, F Mieusset, R
Citation: M. Daudin et al., Congenital bilateral absence of the vas deferens: clinical characteristics, biological parameters, cystic fibrosis transmembrane conductance regulator gene mutations, and implications for genetic counseling, FERT STERIL, 74(6), 2000, pp. 1164-1174
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
Risultati: 1-7 |