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Results: 1-8 |
Results: 8
Familial/bilateral and sporadic testicular germ cell tumors show frequent genetic changes at loci with suggestive linkage evidence
Authors: Skotheim, RI Kraggerud, SM Fossa, SD Stenwig, AE Gedde-Dahl, T Danielsen, HE Jakobsen, KS Lothe, RA
Citation: Ri. Skotheim et al., Familial/bilateral and sporadic testicular germ cell tumors show frequent genetic changes at loci with suggestive linkage evidence, NEOPLASIA, 3(3), 2001, pp. 196-203
Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13
Authors: Magre, J Delepine, M Khallouf, E Gedde-Dahl, T Van Maldergem, L Sobel, E Papp, J Meier, M Megarbane, A Lathrop, M Capeau, J
Citation: J. Magre et al., Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13, NAT GENET, 28(4), 2001, pp. 365-370
Truncated type XVII collagen expression in a patient with non-Herlitz junctional epidermolysis bullosa caused by a homozygous splice-site mutation
Authors: van Leusden, MR Pas, HH Gedde-Dahl, T Sonnenberg, A Jonkman, MF
Citation: Mr. Van Leusden et al., Truncated type XVII collagen expression in a patient with non-Herlitz junctional epidermolysis bullosa caused by a homozygous splice-site mutation, LAB INV, 81(6), 2001, pp. 887-894
Generalized dystrophic epidermolysis bullosa: identification of a novel, homozygous glycine substitution, G2031S, in exon 73 of COL7A1 in monozygous triplets
Authors: Nordal, EJ Mecklenbeck, S Hausser, I Skranes, J Bruckner-Tuderman, L Gedde-Dahl, T
Citation: Ej. Nordal et al., Generalized dystrophic epidermolysis bullosa: identification of a novel, homozygous glycine substitution, G2031S, in exon 73 of COL7A1 in monozygous triplets, BR J DERM, 144(1), 2001, pp. 151-157
Phenotypic/genotypic correlations in patients with epidermolytic hyperkeratosis and the effects of retinoid therapy on keratin expression
Authors: Virtanen, M Gedde-Dahl, T Mork, NJ Leigh, I Bowden, PE Vahlquist, A
Citation: M. Virtanen et al., Phenotypic/genotypic correlations in patients with epidermolytic hyperkeratosis and the effects of retinoid therapy on keratin expression, ACT DER-VEN, 81(3), 2001, pp. 163-170
DXYS267: DYS393 and its X chromosome counterpart
Authors: Dupuy, BM Gedde-Dahl, T Olaisen, B
Citation: Bm. Dupuy et al., DXYS267: DYS393 and its X chromosome counterpart, FOREN SCI I, 112(2-3), 2000, pp. 111-121
Haplotype association and mutation analysis of the transglutaminase 1 genefor prenatal exclusion of lamellar ichthyosis
Authors: Pigg, M Gedde-Dahl, T Cox, DW Haugen, G Dahl, N
Citation: M. Pigg et al., Haplotype association and mutation analysis of the transglutaminase 1 genefor prenatal exclusion of lamellar ichthyosis, PRENAT DIAG, 20(2), 2000, pp. 132-137
Strong founder effect for a transglutaminase 1 gene mutation in lamellar ichthyosis and congenital ichthyosiform erythroderma from Norway
Authors: Pigg, M Gedde-Dahl, T Cox, D Hausser, I Anton-Lamprecht, I Dahl, N
Citation: M. Pigg et al., Strong founder effect for a transglutaminase 1 gene mutation in lamellar ichthyosis and congenital ichthyosiform erythroderma from Norway, EUR J HUM G, 6(6), 1998, pp. 589-596
Risultati: 1-8 |