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Results:
1-7
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Results: 7
Authors:
Tredano, M
Cneude, F
Denamur, E
Truffert, P
Capron, F
Manouvrier, S
Feldmann, D
Couderc, R
Elion, J
Lacaze-Masmonteil, T
Citation: M. Tredano et al., Clinical presentation, immunohistologic features, molecular confirmation, and prenatal diagnosis of surfactant protein B (SP-B) deficiency., ARCH PED, 7(6), 2000, pp. 641-644
Authors:
Brun, L
Dufour, P
Savary, JB
Valat, AS
Boute, O
Subtil, D
Vaast, P
Bourgeot, P
Manouvrier, S
de Martinville, B
Puech, F
Citation: L. Brun et al., Trisomy 18: ultrasound findings in 40 cases, PRESSE MED, 29(38), 2000, pp. 2082-2086
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:
Melkoniemi, M
Brunner, HG
Manouvrier, S
Hennekam, R
Superti-Furga, A
Kaariainen, H
Pauli, RM
van Essen, T
Warman, ML
Bonaventure, J
Miny, P
Ala-Kokko, L
Citation: M. Melkoniemi et al., Autosomal recessive disorder otospondylomegaepiphyseal dysplasia is associated with loss-of-function mutations in the COL11A2 gene, AM J HU GEN, 66(2), 2000, pp. 368-377
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
Risultati:
1-7
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