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Results: 1-5 |
Results: 5

Authors: Guilbot, A Williams, A Ravise, N Verny, C Brice, A Sherman, DL Brophy, PJ LeGuern, E Delague, V Bareil, C Megarbane, A Claustres, M
Citation: A. Guilbot et al., A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot-Marie-Tooth disease, HUM MOL GEN, 10(4), 2001, pp. 415-421

Authors: Delague, V Bareil, C Bouvagnet, P Salem, N Chouery, E Loiselet, J Megarbane, A Claustres, M
Citation: V. Delague et al., Nonprogressive autosomal recessive ataxia maps to chromosome 9q34-9qter ina large consanguineous Lebanese family, ANN NEUROL, 50(2), 2001, pp. 250-253

Authors: Bareil, C Hamel, CP Delague, V Arnaud, B Demaille, J Claustres, M
Citation: C. Bareil et al., Segregation of a mutation in CNGB1 encoding the beta-subunit of the rod cGMP-gated channel in a family with autosomal recessive retinitis pigmentosa, HUM GENET, 108(4), 2001, pp. 328-334

Authors: Hamel, CP Griffoin, JM Bazalgette, C Lasquellec, L Duval, PA Bareil, C Beaufrere, L Bonnet, S Eliaou, C Marlhens, F Schmitt-Bernard, CF Tuffery, S Claustres, M Arnaud, B
Citation: Cp. Hamel et al., Molecular genetics of pigmentary retinopathies: Identification of mutations in CHM, RDS, RHO, RPE65, USH2A and XLRS1 genes, J FR OPHTAL, 23(10), 2000, pp. 985-995

Authors: Delague, V Bareil, C Tuffery, S Bouvagnet, P Chouery, E Koussa, S Maisonobe, T Loiselet, J Megarbane, A Claustres, M
Citation: V. Delague et al., Mapping of a new locus for autosomal recessive demyelinating Charcot-Marie-Tooth disease to 19q13.1-13.3 in a large consanguineous Lebanese family: Exclusion of MAG as a candidate gene, AM J HU GEN, 67(1), 2000, pp. 236-243
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