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Results: 1-10 |
Results: 10
The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome
Authors: Crisponi, L Deiana, M Loi, A Chiappe, F Uda, M Amati, P Bisceglia, L Zelante, L Nagaraja, R Porcu, S Ristaldi, MS Marzella, R Rocchi, M Nicolino, M Lienhardt-Roussie, A Nivelon, A Verloes, A Schlessinger, D Gasparini, P Bonneau, D Cao, A Pilia, G
Citation: L. Crisponi et al., The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome, NAT GENET, 27(2), 2001, pp. 159-166
Management of neonates in a suspected case of congenital adrenal hyperplasia
Authors: Nicolino, M
Citation: M. Nicolino, Management of neonates in a suspected case of congenital adrenal hyperplasia, ARCH PED, 8, 2001, pp. 332S-334S
Neonatal diabetes
Authors: Nicolino, M
Citation: M. Nicolino, Neonatal diabetes, ARCH PED, 8, 2001, pp. 340S-341S
Primary lymphoma of the pituitary stalk in an immunocompetent 9-year-old child
Authors: Baleydier, F Galambrun, C Manel, AM Guibaud, L Nicolino, M Bertrand, Y
Citation: F. Baleydier et al., Primary lymphoma of the pituitary stalk in an immunocompetent 9-year-old child, MED PED ONC, 36(3), 2001, pp. 392-395
Juvenile and adult-onset acid maltase deficiency in France: Genotype-phenotype correlation - Reply
Authors: Laforet, P Eymard, B Fardeau, M Caillaud, C Nicolino, M Poenaru, L
Citation: P. Laforet et al., Juvenile and adult-onset acid maltase deficiency in France: Genotype-phenotype correlation - Reply, NEUROLOGY, 57(10), 2001, pp. 1938-1938
Mutant WD-repeat protein in triple-A syndrome
Authors: Tullio-Pelet, A Salomon, R Hadj-Rabia, S Mugnier, C de Laet, MH Chaouachi, B Bakiri, F Brottier, P Cattolico, L Penet, C Begeot, M Naville, D Nicolino, M Chaussain, JL Weissenbach, J Munnich, R Lyonnet, S
Citation: A. Tullio-pelet et al., Mutant WD-repeat protein in triple-A syndrome, NAT GENET, 26(3), 2000, pp. 332-335
EIF2AK3, encoding translation initiation factor 2-alpha kinase 3, is mutated in patients with Wolcott-Rallison syndrome
Authors: Delepine, M Nicolino, M Barrett, T Golamaully, M Lathrop, GM Julier, C
Citation: M. Delepine et al., EIF2AK3, encoding translation initiation factor 2-alpha kinase 3, is mutated in patients with Wolcott-Rallison syndrome, NAT GENET, 25(4), 2000, pp. 406-409
Oral insulin administration and residual beta-cell function in recent-onset type 1 diabetes: a multicentre randomised controlled trial
Authors: Chaillous, L Lefevre, H Thivolet, C Boitard, C Lahlou, N Atlan-Gepner, C Bouhanick, B Mogenet, A Nicolino, M Carel, JC Lecomte, P Marechaud, R Bougneres, P Charbonnel, B Sai, P
Citation: L. Chaillous et al., Oral insulin administration and residual beta-cell function in recent-onset type 1 diabetes: a multicentre randomised controlled trial, LANCET, 356(9229), 2000, pp. 545-549
Juvenile and adult-onset acid maltase deficiency in France - Genotype-phenotype correlation
Authors: Laforet, P Nicolino, M Eymard, B Puech, JP Caillaud, C Poenaru, L Fardeau, M
Citation: P. Laforet et al., Juvenile and adult-onset acid maltase deficiency in France - Genotype-phenotype correlation, NEUROLOGY, 55(8), 2000, pp. 1122-1128
Evaluation of gonadal function in 107 intersex patients by means of serum antimullerian hormone measurement
Authors: Rey, RA Belville, C Nihoul-Fekete, C Michel-Calemard, L Forest, MG Lahlou, N Jaubert, F Mowszowicz, I David, M Saka, N Bouvattier, C Bertrand, AM Lecointre, C Soskin, S Cabrol, S Crosnier, H Leger, J Lortat-Jacob, S Nicolino, M Rabl, W Toledo, SPA Bas, F Gompel, A Czernichow, P Chatelain, P Rappaport, R Morel, Y Josso, N
Citation: Ra. Rey et al., Evaluation of gonadal function in 107 intersex patients by means of serum antimullerian hormone measurement, J CLIN END, 84(2), 1999, pp. 627-631
Risultati: 1-10 |