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Results: 1-9 |
Results: 9
A novel acropectoral syndrome maps to chromosome 7q36
Authors: Dundar, M Gordon, TM Ozyazgan, I Oguzkaya, F Ozkul, Y Cooke, A Wilkinson, AG Holloway, S Goodman, FR Tolmie, JL
Citation: M. Dundar et al., A novel acropectoral syndrome maps to chromosome 7q36, J MED GENET, 38(5), 2001, pp. 304-309
Cenani-Lenz syndrome with renal hypoplasia is not linked to FORMIN or GREMLIN
Authors: Bacchelli, C Goodman, FR Scambler, PJ Winter, RM
Citation: C. Bacchelli et al., Cenani-Lenz syndrome with renal hypoplasia is not linked to FORMIN or GREMLIN, CLIN GENET, 59(3), 2001, pp. 203-205
Human HOX gene mutations
Authors: Goodman, FR Scambler, PJ
Citation: Fr. Goodman et Pj. Scambler, Human HOX gene mutations, CLIN GENET, 59(1), 2001, pp. 1-11
Physical map of a 1.5 Mb region on 12p11.2 harbouring a synpolydactyly associated chromosomal breakpoint
Authors: Debeer, P Schoenmakers, EFPM Thoelen, R Holvoet, M Kuittinen, T Fabry, G Fryns, JP Goodman, FR Van de Ven, WJM
Citation: P. Debeer et al., Physical map of a 1.5 Mb region on 12p11.2 harbouring a synpolydactyly associated chromosomal breakpoint, EUR J HUM G, 8(8), 2000, pp. 561-570
Novel HOXA13 mutations and the phenotypic spectrum of hand-foot-genital syndrome
Authors: Goodman, FR Bacchelli, C Brady, AF Brueton, LA Fryns, JP Mortlock, DP Innis, JW Holmes, LB Donnenfeld, AE Feingold, M Beemer, FA Hennekam, RCM Scambler, PJ
Citation: Fr. Goodman et al., Novel HOXA13 mutations and the phenotypic spectrum of hand-foot-genital syndrome, AM J HU GEN, 67(1), 2000, pp. 197-202
Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis
Authors: Gong, YQ Krakow, D Marcelino, J Wilkin, D Chitayat, D Babul-Hirji, R Hudgins, L Cremers, CW Cremers, FPM Brunner, HG Reinker, K Rimoin, DL Cohn, DH Goodman, FR Reardon, W Patton, M Francomano, CA Warman, ML
Citation: Yq. Gong et al., Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis, NAT GENET, 21(3), 1999, pp. 302-304
Sacral dysgenesis associated with terminal deletion of chromosome 7q: a report of two families
Authors: Wang, J Spitz, L Hayward, R Kiely, E Hall, CM O'Donoghue, DP Palmer, R Goodman, FR Scambler, PJ Winter, RM Reardon, W
Citation: J. Wang et al., Sacral dysgenesis associated with terminal deletion of chromosome 7q: a report of two families, EUR J PED, 158(11), 1999, pp. 902-905
Acromelic frontonasal dysostosis
Authors: Slaney, SF Goodman, FR Eilers-Walsman, BLC Hall, BD Williams, DK Young, ID Hayward, RD Jones, BM Christianson, AL Winter, RM
Citation: Sf. Slaney et al., Acromelic frontonasal dysostosis, AM J MED G, 83(2), 1999, pp. 109-116
Preaxial polydactyly in an infant with Down's syndrome
Authors: Ramanan, AV Hussain, K Kempley, ST Goodman, FR
Citation: Av. Ramanan et al., Preaxial polydactyly in an infant with Down's syndrome, CLIN GENET, 55(2), 1999, pp. 131-132
Risultati: 1-9 |