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Results: 1-9 |
Results: 9
Spectrum of dominant mutations in the desmosomal cadherin desmoglein 1, causing the skin disease striate palmoplantar keratoderma
Authors: Hunt, DM Rickman, L Whittock, NV Eady, RA Simrak, D Dopping-Hepenstal, PJC Stevens, HP Armstrong, DKB Hennies, HC Kuster, W Hughes, AE Arnemann, J Leigh, IM McGrath, JA Kelsell, DP Buxton, RS
Citation: Dm. Hunt et al., Spectrum of dominant mutations in the desmosomal cadherin desmoglein 1, causing the skin disease striate palmoplantar keratoderma, EUR J HUM G, 9(3), 2001, pp. 197-203
Cystic fibrosis - Primary diagnosis in a 39-year-old patient
Authors: Bargon, J Rickmann, B Jacobi, V Straub, R Arnemann, J Wagner, TOF
Citation: J. Bargon et al., Cystic fibrosis - Primary diagnosis in a 39-year-old patient, MED KLIN, 95(12), 2000, pp. 697-700
Genomic organization and regulation of the human interleukin-18 gene
Authors: Kalina, U Ballas, K Koyama, N Kauschat, D Miething, C Arnemann, J Martin, H Hoelzer, D Ottmann, OG
Citation: U. Kalina et al., Genomic organization and regulation of the human interleukin-18 gene, SC J IMMUN, 52(6), 2000, pp. 525-530
Prenatal diagnosis of a fetus with a cryptic translocation 4p;18p and Wolf-Hirschhorn syndrome (WHS)
Authors: Kohlschmidt, N Zielinski, J Brude, E Schafer, D Olert, J Hallermann, C Coerdt, W Arnemann, J
Citation: N. Kohlschmidt et al., Prenatal diagnosis of a fetus with a cryptic translocation 4p;18p and Wolf-Hirschhorn syndrome (WHS), PRENAT DIAG, 20(2), 2000, pp. 152-155
Incidental prenatal detection of an Xp deletion using an anonymous primer pair for fetal sexing
Authors: Jakubiczka, S Mitulla, B Liehr, T Arnemann, J Lehrach, H Sudbrak, R Stumm, M Wieacker, PF Bettecken, T
Citation: S. Jakubiczka et al., Incidental prenatal detection of an Xp deletion using an anonymous primer pair for fetal sexing, PRENAT DIAG, 20(10), 2000, pp. 842-846
N-terminal deletion in a desmosomal cadherin causes the autosomal dominantskin disease striate palmoplantar keratoderma
Authors: Rickman, L Simrak, D Stevens, HP Hunt, DM King, IA Bryant, SP Eady, RAJ Leigh, IM Arnemann, J Magee, AI Kelsell, DP Buxton, RS
Citation: L. Rickman et al., N-terminal deletion in a desmosomal cadherin causes the autosomal dominantskin disease striate palmoplantar keratoderma, HUM MOL GEN, 8(6), 1999, pp. 971-976
No association between the Delta F508 cystic fibrosis mutation and type 2 diabetes mellitus
Authors: Braun, J Arnemann, J Lohrey, M Donner, F Siegmund, T Usadel, KH Badenhoop, K
Citation: J. Braun et al., No association between the Delta F508 cystic fibrosis mutation and type 2 diabetes mellitus, EXP CL E D, 107(8), 1999, pp. 568-569
Clustered cadherin genes: A sequence-ready contig for the desmosomal cadherin locus on human chromosome 18
Authors: Hunt, DM Sahota, VK Taylor, K Simrak, D Hornigold, N Arnemann, J Wolfe, J Buxton, RS
Citation: Dm. Hunt et al., Clustered cadherin genes: A sequence-ready contig for the desmosomal cadherin locus on human chromosome 18, GENOMICS, 62(3), 1999, pp. 445-455
Detection of TSPY protein in a unilateral microscopic gonadoblastoma of a Turner mosaic patient with a Y-derived marker chromosome
Authors: Hildenbrand, R Schroder, W Brude, E Schepler, A Konig, R Stutte, HJ Arnemann, J
Citation: R. Hildenbrand et al., Detection of TSPY protein in a unilateral microscopic gonadoblastoma of a Turner mosaic patient with a Y-derived marker chromosome, J PATHOLOGY, 189(4), 1999, pp. 623-626
Risultati: 1-9 |