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Results: 1-10 |
Results: 10
Exposure to hydroxyurea during pregnancy: a case series
Authors: Thauvin-Robinet, C Maingueneau, C Robert, E Elefant, E Guy, H Caillot, D Casasnovas, RO Douvier, S Nivelon-Chevallier, A
Citation: C. Thauvin-robinet et al., Exposure to hydroxyurea during pregnancy: a case series, LEUKEMIA, 15(8), 2001, pp. 1309-1311
Infantile systemic hyalinosis: a case with atypical prolonged survival
Authors: Thauvin-Robinet, C Faivre, L Beer, F Justrabo, E Nivelon-Chevallier, A Huer, F
Citation: C. Thauvin-robinet et al., Infantile systemic hyalinosis: a case with atypical prolonged survival, ACT PAEDIAT, 90(6), 2001, pp. 705-706
Familial orofaciodigital syndrome type I revealed by ultrasound prenatal diagnosis of porencephaly
Authors: Thauvin-Robinet, C Rousseau, T Durand, C Laurent, N Maingueneau, C Faivre, L Sagot, P Nivelon-Chevallier, A
Citation: C. Thauvin-robinet et al., Familial orofaciodigital syndrome type I revealed by ultrasound prenatal diagnosis of porencephaly, PRENAT DIAG, 21(6), 2001, pp. 466-470
Mazabraud syndrome in two patients: Clinical overlap with McCune-Albright syndrome
Authors: Faivre, L Nivelon-Chevallier, A Kottler, ML Robinet, C Van Kien, PK Lorcerie, B Munnich, A Maroteaux, P Cormier-Daire, V LeMerrer, M
Citation: L. Faivre et al., Mazabraud syndrome in two patients: Clinical overlap with McCune-Albright syndrome, AM J MED G, 99(2), 2001, pp. 132-136
A major locus for several phenotypes of myoclonus-dystonia on chromosome 7q
Authors: Vidailhet, M Tassin, J Durif, F Nivelon-Chevallier, A Agid, Y Brice, A Durr, A
Citation: M. Vidailhet et al., A major locus for several phenotypes of myoclonus-dystonia on chromosome 7q, NEUROLOGY, 56(9), 2001, pp. 1213-1216
Prenatal diagnosis of a partial trisomy 7q in two fetuses with bilateral ventriculomegaly
Authors: Robinet, C Douvier, S Van Kien, PK Favre, B Luquet, I Nadal, N Nivelon-Chevallier, A Mugneret, F
Citation: C. Robinet et al., Prenatal diagnosis of a partial trisomy 7q in two fetuses with bilateral ventriculomegaly, PRENAT DIAG, 20(11), 2000, pp. 936-938
Neurological phenotype in Waardenburg syndrome type 4 correlates with novel SOX10 truncating mutations and expression in developing brain
Authors: Touraine, RL Attie-Bitach, T Manceau, E Korsch, E Sarda, P Pingault, V Encha-Razavi, F Pelet, A Auge, J Nivelon-Chevallier, A Holschneider, AM Munnes, M Doerfler, W Goossens, M Munnich, A Vekemans, M Lyonnet, S
Citation: Rl. Touraine et al., Neurological phenotype in Waardenburg syndrome type 4 correlates with novel SOX10 truncating mutations and expression in developing brain, AM J HU GEN, 66(5), 2000, pp. 1496-1503
Friedreich's ataxia: Point mutations and clinical presentation of compoundheterozygotes
Authors: Cossee, M Durr, A Schmitt, M Dahl, N Trouillas, P Allinson, P Kostrzewa, M Nivelon-Chevallier, A Gustavson, KH Kohlschutter, A Muller, U Mandel, JL Brice, A Koenig, M Cavalcanti, F Tammaro, A De Michele, G Filla, A Cocozza, S Labuda, M Montermini, L Poirier, J Pandolfo, M
Citation: M. Cossee et al., Friedreich's ataxia: Point mutations and clinical presentation of compoundheterozygotes, ANN NEUROL, 45(2), 1999, pp. 200-206
Can Hutchinson-Gilford progeria syndrome be a neonatal condition?
Authors: Faivre, L Van Kien, PK Madinier-Chappat, N Nivelon-Chevallier, A Beer, F LeMerrer, M
Citation: L. Faivre et al., Can Hutchinson-Gilford progeria syndrome be a neonatal condition?, AM J MED G, 87(5), 1999, pp. 450-452
Two cases of terminal deletion of chromosome 13: Clinical features, conventional and molecular cytogenetic analysis
Authors: Luquet, I Favre, B Nadal, N Madinier, N Van Kien, PK Huet, F Nivelon-Chevallier, A Mugneret, F
Citation: I. Luquet et al., Two cases of terminal deletion of chromosome 13: Clinical features, conventional and molecular cytogenetic analysis, ANN GENET, 42(1), 1999, pp. 33-39
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