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Results:
1-13
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Results: 13
Authors:
Mansour, I
Delague, V
Cazeneuve, C
Dode, C
Chouery, E
Pecheux, C
Medlej-Hashim, M
Salem, N
El Zein, L
Levan-Petit, I
Lefranc, G
Goossens, M
Delpech, M
Amselem, S
Loiselet, J
Grateau, G
Megarbane, A
Naman, R
Citation: I. Mansour et al., Familial Mediterranean fever in Lebanon: mutation spectrum, evidence for cases in Maronites, Creek orthodoxes, Creek catholics, Syriacs and Chiites and for an association between amyloidosis and M694V and M6941 mutations, EUR J HUM G, 9(1), 2001, pp. 51-55
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:
Guilbot, A
Delague, V
Citation: A. Guilbot et V. Delague, From mice to human: periaxin is responsible for an autosomal recessive form of Charcot-Marie-Tooth disease, M S-MED SCI, 17(5), 2001, pp. 663-665
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:
Megarbane, A
Delague, V
Ruchoux, MM
Rizkallah, E
Maurage, CA
Viollet, L
Rouaix-Emery, N
Urtizberea, A
Citation: A. Megarbane et al., New autosomal recessive cerebellar ataxia disorder in a large inbred Lebanese family, AM J MED G, 101(2), 2001, pp. 135-141
Authors:
Megarbane, A
Salem, N
Stephan, E
Ashoush, R
Lenoir, D
Delague, V
Kassab, R
Loiselet, J
Bouvagnet, A
Citation: A. Megarbane et al., X-linked transposition of the great arteries and incomplete penetrance among males with a nonsense mutation in ZIC3, EUR J HUM G, 8(9), 2000, pp. 704-708
Authors:
Delague, V
Souraty, N
Khallouf, E
Tardy, V
Chouery, E
Halaby, G
Loiselet, J
Morel, Y
Megarbane, A
Citation: V. Delague et al., Mutational analysis in Lebanese patients with congenital adrenal hyperplasia due to a deficit in 21-hydroxylase, HORMONE RES, 53(2), 2000, pp. 77-82
Authors:
Megarbane, A
Desguerres, I
Rizkallah, E
Delague, V
Nabbout, R
Barois, A
Urtizberea, A
Citation: A. Megarbane et al., Brown-Vialetto-Van Laere syndrome in a large inbred Lebanese family: Confirmation of autosomal recessive inheritance?, AM J MED G, 92(2), 2000, pp. 117-121
Authors:
Megarbane, A
Mustapha, M
Bleik, J
Waked, N
Delague, V
Loiselet, J
Citation: A. Megarbane et al., Exclusion of chromosome 15q21.1 in autosomal-recessive Weill-Marchesani syndrome in an inbred Lebanese family, CLIN GENET, 58(6), 2000, pp. 473-478
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
Authors:
Megarbane, A
Delague, V
Salem, N
Loiselet, J
Citation: A. Megarbane et al., Autosomal recessive congenital cerebellar hypoplasia and short stature in a large inbred family, AM J MED G, 87(1), 1999, pp. 88-90
Authors:
Buchin, S
Delague, V
Duboz, G
Berdague, JL
Beuvier, E
Pochet, S
Grappin, R
Citation: S. Buchin et al., Influence of pasteurization and fat composition of milk on the volatile compounds and flavor characteristics of a semi-hard cheese, J DAIRY SCI, 81(12), 1998, pp. 3097-3108
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