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Results: 1-9 |
Results: 9
CARD15 mutations in Blau syndrome
Authors: Miceli-Richard, C Lesage, S Rybojad, M Prieur, AM Manouvrier-Hanu, S Hafner, R Chamaillard, M Zouali, H Thomas, G Hugot, JP
Citation: C. Miceli-richard et al., CARD15 mutations in Blau syndrome, NAT GENET, 29(1), 2001, pp. 19-20
Pure ectodermal dysplasia: Retrospective study of 16 cases and literature review
Authors: Ruhin, B Martinot, V Lafforgue, P Catteau, B Manouvrier-Hanu, S Ferri, J
Citation: B. Ruhin et al., Pure ectodermal dysplasia: Retrospective study of 16 cases and literature review, CLEF PAL-CR, 38(5), 2001, pp. 504-518
The Dyggve-Melchior-Clausen syndrome: differential diagnosis of mucopolysaccharidosis type IV or Morquio's syndrome
Authors: Coeslier, A Boute-Benejean, O Moerman, A Fron, D Manouvrier-Hanu, S
Citation: A. Coeslier et al., The Dyggve-Melchior-Clausen syndrome: differential diagnosis of mucopolysaccharidosis type IV or Morquio's syndrome, ARCH PED, 8(8), 2001, pp. 838-842
Interest of fetal autopsy in induced abortions: comparison of prenatal diagnosis and post mortem examination of 300 fetus
Authors: Laussel-Riera, A Devisme, L Manouvrier-Hanu, S Puech, F Robert, Y Gosselin, B
Citation: A. Laussel-riera et al., Interest of fetal autopsy in induced abortions: comparison of prenatal diagnosis and post mortem examination of 300 fetus, ANN PATHOL, 20(6), 2000, pp. 549-557
Sex reversal and diaphragmatic hernia in phenotypically female sibs with normal XY chromosomes
Authors: Manouvrier-Hanu, S Besson, R Cousin, L Jeanpierre, C Kacet, N Cartigny, M Devisme, L Storme, L De Martinville, B Lequien, P
Citation: S. Manouvrier-hanu et al., Sex reversal and diaphragmatic hernia in phenotypically female sibs with normal XY chromosomes, J MED GENET, 37(4), 2000, pp. 315-318
Genetics of limb anomalies in humans
Authors: Manouvrier-Hanu, S Holder-Espinasse, M Lyonnet, S
Citation: S. Manouvrier-hanu et al., Genetics of limb anomalies in humans, TRENDS GEN, 15(10), 1999, pp. 409-417
The Richieri-Costa and Pereira form of acrofacial dysostosis: First case in a non-Brazilian infant
Authors: Walter-Nicolet, E Coeslier, A Joriot, S Kacet, N Moerman, A Manouvrier-Hanu, S
Citation: E. Walter-nicolet et al., The Richieri-Costa and Pereira form of acrofacial dysostosis: First case in a non-Brazilian infant, AM J MED G, 87(5), 1999, pp. 430-433
Bardet-Biedl syndrome with preaxial polydactyly
Authors: Manouvrier-Hanu, S Moerman, A Lefevre, J
Citation: S. Manouvrier-hanu et al., Bardet-Biedl syndrome with preaxial polydactyly, AM J MED G, 84(1), 1999, pp. 75-75
Unreported RSK2 missense mutation in two male sibs with an unusually mild form of Coffin-Lowry syndrome
Authors: Manouvrier-Hanu, S Amiel, J Jacquot, S Merienne, K Moerman, A Coeslier, A Labarriere, F Vallee, L Croquette, MF Hanauer, A
Citation: S. Manouvrier-hanu et al., Unreported RSK2 missense mutation in two male sibs with an unusually mild form of Coffin-Lowry syndrome, J MED GENET, 36(10), 1999, pp. 775-778
Risultati: 1-9 |