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Results: 1-5 |
Results: 5

Authors: Gaston, V Le Bouc, Y Soupre, V Burglen, L Donadieu, J Oro, H Audry, G Vazquez, MP Gicquel, C
Citation: V. Gaston et al., Analysis of the methylation status of the KCNQ1OT and H19 genes in leukocyte DNA for the diagnosis and prognosis of Beckwith-Wiedemann syndrome, EUR J HUM G, 9(6), 2001, pp. 409-418

Authors: Skordis, LA Dunckley, MG Burglen, L Campbell, L Talbot, K Patel, S Melki, J Davies, KE Dubowitz, V Muntoni, F
Citation: La. Skordis et al., Characterisation of novel point mutations in the survival motor neuron gene SMN, in three patients with SMA, HUM GENET, 108(4), 2001, pp. 356-357

Authors: Houdayer, C Bonaiti-Pellie, C Erguy, C Soupre, V Dondon, MG Burglen, L Cougoureux, E Couderc, R Vazquez, MP Bahuau, M
Citation: C. Houdayer et al., Possible relationship between the van der Woude syndrome (vWS) locus and nonsyndromic cleft lip with or without cleft palate (NSCL/P), AM J MED G, 104(1), 2001, pp. 86-92

Authors: de Montgolfier-Aubron, I Burglen, L Chavet, MS Tevissen, H Perrot, C Baudon, JJ Gold, F
Citation: I. De Montgolfier-aubron et al., Early digestive revelation of Williams-Beuren syndrome: a case report., ARCH PED, 7(10), 2000, pp. 1085-1087

Authors: Cormier-Daire, V Dagoneau, N Nabbout, R Burglen, L Penet, C Soufflet, C Desguerre, I Munnich, A Dulac, O
Citation: V. Cormier-daire et al., A gene for pyridoxine-dependent epilepsy maps to chromosome 5q31, AM J HU GEN, 67(4), 2000, pp. 991-993
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