Authors:
Amiel, J
Espinosa-Parrilla, Y
Steffann, J
Gosset, P
Pelet, A
Prieur, M
Boute, O
Choiset, A
Lacombe, D
Philip, N
Le Merrer, M
Tanaka, H
Till, M
Touraine, R
Toutain, A
Vekemans, M
Munnich, A
Lyonnet, S
Citation: J. Amiel et al., Large-scale deletions and SMADIP1 truncating mutations in syndromic hirschsprung disease with involvement of midline structures, AM J HU GEN, 69(6), 2001, pp. 1370-1377
Authors:
Manouvrier, S
Moerman, A
Coeslier, A
Devisme, L
Boute, O
Le Merrer, M
Citation: S. Manouvrier et al., Radioulnar synostosis, radial ray abnormalities, and severe malformations in the male: A new X-linked dominant multiple congenital anomalies syndrome?, AM J MED G, 90(5), 2000, pp. 351-355
Authors:
Jacquemin, E
Cresteil, D
Manouvrier, S
Boute, O
Hadchouel, M
Citation: E. Jacquemin et al., Heterozygous non-sense mutation of the MDR3 gene in familial intrahepatic cholestasis of pregnancy, LANCET, 353(9148), 1999, pp. 210-211
Authors:
Manouvrier, S
Boute, O
Viot, G
Delobel, B
Citation: S. Manouvrier et al., Deletion of chromosome 4p detected by FISH in a girl with normal high resolution karyotype, CLIN GENET, 55(2), 1999, pp. 127-129
Authors:
Duval, A
Boute, O
Devisme, L
Valat, AS
Manouvrier, S
Citation: A. Duval et al., New autosomal recessive syndrome of severe microcephaly and skeletal anomalies including posterior rib-gap defects, AM J MED G, 80(4), 1998, pp. 429-434