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Results:
1-22
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Results: 22
Authors:
Han, S
Cooper, DN
Upadhyaya, M
Citation: S. Han et al., Evaluation of denaturing high performance liquid chromatography (DHPLC) for the mutational analysis of the neurofibromatosis type 1 (NF1) gene, HUM GENET, 109(5), 2001, pp. 487-497
Authors:
Winter, H
Langbein, L
Krawczak, M
Cooper, DN
Jave-Suarez, LF
Rogers, MA
Praetzel, S
Heidt, PJ
Schweizer, J
Citation: H. Winter et al., Human type I keratin pseudogene phi hHaA has functional orthologs in the chimpanzee and gorilla: evidence for recent inactivation of the human gene after the Pan-Homo divergence, HUM GENET, 108(1), 2001, pp. 37-42
Authors:
Al-Jader, LN
Harper, PS
Krawczak, M
Palmer, SR
Johansen, BN
Cooper, DN
Citation: Ln. Al-jader et al., The frequency of inherited disorders database, HUM GENET, 108(1), 2001, pp. 72-74
Authors:
Martin, MA
Rubio, JC
Garcia, A
Fernandez, MA
Campos, Y
Krawczak, M
Cooper, DN
Arenas, J
Citation: Ma. Martin et al., Resolution of a mispaired secondary structure intermediate could account for a novel micro-insertion/deletion (387 insA/del 8 bp) in the PYGM gene causing McArdle's disease, CLIN GENET, 59(1), 2001, pp. 48-51
Authors:
Krawczak, M
Cooper, DN
Schmidtke, J
Citation: M. Krawczak et al., Estimating the efficacy and efficiency of cascade genetic screening, AM J HU GEN, 69(2), 2001, pp. 361-370
Authors:
Evans, RJ
Mareels, IMY
Sciacca, LJ
Cooper, DN
Middleton, RH
Betz, RE
Kennedy, RA
Citation: Rj. Evans et al., Adaptive servo control of large antenna structures, MODEL INDENTIFICATION AND ADAPTIVE CONTROL: FROM WINDSURFING TO TELECOMMUNICATIONS, 2001, pp. 127-151
Authors:
Krawczak, M
Ball, EV
Fenton, I
Stenson, PD
Abeysinghe, S
Thomas, N
Cooper, DN
Citation: M. Krawczak et al., Human gene mutation database - A biomedical information and research resource, HUM MUTAT, 15(1), 2000, pp. 45-51
Authors:
Cheadle, JP
Gill, H
Fleming, N
Maynard, J
Kerr, A
Leonard, H
Krawczak, M
Cooper, DN
Lynch, S
Thomas, N
Hughes, H
Hulten, M
Ravine, D
Sampson, JR
Clarke, A
Citation: Jp. Cheadle et al., Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location, HUM MOL GEN, 9(7), 2000, pp. 1119-1129
Authors:
Cheadle, JP
Gill, H
Fleming, N
Maynard, J
Kerr, A
Leonard, H
Krawczak, M
Cooper, DN
Lynch, S
Thomas, N
Hughes, H
Hulten, M
Ravine, D
Sampson, JR
Clarke, A
Citation: Jp. Cheadle et al., Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location (vol 9, pg 1119, 2000), HUM MOL GEN, 9(11), 2000, pp. 1717-1717
Authors:
Symons, A
Cooper, DN
Barclay, AN
Citation: A. Symons et al., Characterization of the interaction between galectin-1 and lymphocyte glycoproteins CD45 and Thy-1, GLYCOBIOLOG, 10(6), 2000, pp. 559-563
Authors:
Chuzhanova, NA
Krawczak, M
Nemytikova, LA
Gusev, VD
Cooper, DN
Citation: Na. Chuzhanova et al., Promoter shuffling has occurred during the evolution of the vertebrate growth hormone gene, GENE, 254(1-2), 2000, pp. 9-18
Authors:
Shamsher, MK
Chuzhanova, NA
Friedman, B
Scopes, DA
Alhaq, A
Millar, DS
Cooper, DN
Berg, LP
Citation: Mk. Shamsher et al., Identification of an intronic regulatory element in the human protein C (PROC) gene, HUM GENET, 107(5), 2000, pp. 458-465
Authors:
Millar, DS
Kemball-Cook, G
McVey, JH
Tuddenham, EGD
Mumford, AD
Attock, GB
Reverter, JC
Lanir, N
Parapia, LA
Reynaud, J
Meili, E
von Felton, A
Martinowitz, U
Prangnell, DR
Krawczak, M
Cooper, DN
Citation: Ds. Millar et al., Molecular analysis of the genotype-phenotype relationship in factor VII deficiency, HUM GENET, 107(4), 2000, pp. 327-342
Authors:
Krawczak, M
Chuzhanova, NA
Stenson, PD
Johansen, BN
Ball, EV
Cooper, DN
Citation: M. Krawczak et al., Changes in primary DNA sequence complexity influence the phenotypic consequences of mutations in human gene regulatory regions, HUM GENET, 107(4), 2000, pp. 362-365
Authors:
Horan, MP
Cooper, DN
Upadhyaya, M
Citation: Mp. Horan et al., Hypermethylation of the neurofibromatosis type 1 (NF1) gene promoter is not a common event in the inactivation of the NF1 gene in NF1-specific tumours, HUM GENET, 107(1), 2000, pp. 33-39
Authors:
Millar, DS
Johansen, B
Berntorp, E
Minford, A
Bolton-Maggs, P
Wensley, R
Kakkar, V
Schulman, S
Torres, A
Bosch, N
Cooper, DN
Citation: Ds. Millar et al., Molecular genetic analysis of severe protein C deficiency, HUM GENET, 106(6), 2000, pp. 646-653
Authors:
Millar, DS
Elliston, L
Deex, P
Krawczak, M
Wacey, AI
Reynaud, J
Nieuwenhuis, HK
Bolton-Maggs, P
Mannucci, PM
Reverter, JC
Cachia, P
Pasi, KJ
Layton, DM
Cooper, DN
Citation: Ds. Millar et al., Molecular analysis of the genotype-phenotype relationship in factor X deficiency, HUM GENET, 106(2), 2000, pp. 249-257
Authors:
Gandrille, S
Borgel, D
Sala, N
Espinosa-Parrilla, Y
Simmonds, R
Rezende, S
Lind, B
Mannhalter, C
Pabinger, I
Reitsma, PH
Formstone, C
Cooper, DN
Saito, H
Suzuki, K
Bernardi, F
Aiach, M
Citation: S. Gandrille et al., Protein S deficiency: A database of mutations - Summary of the first update, THROMB HAEM, 84(5), 2000, pp. 918-918
Authors:
Antonarakis, SE
Krawczak, M
Cooper, DN
Citation: Se. Antonarakis et al., Disease-causing mutations in the human genome, EUR J PED, 159, 2000, pp. S173-S178
Authors:
Osborn, M
Cooper, DN
Upadhyaya, M
Citation: M. Osborn et al., Molecular analysis of the 5 '-flanking region of the neurofibromatosis type 1 (NF1) gene: identification of five sequence variants, CLIN GENET, 57(3), 2000, pp. 221-224
Authors:
Krawczak, M
Chuzhanova, NA
Cooper, DN
Citation: M. Krawczak et al., Evolution of the proximal promoter region of the mammalian growth hormone gene, GENE, 237(1), 1999, pp. 143-151
Authors:
Wacey, AI
Cooper, DN
Liney, D
Hovig, E
Krawczak, M
Citation: Ai. Wacey et al., Disentangling the perturbational effects of amino acid substitutions in the DNA-binding domain of p53, HUM GENET, 104(1), 1999, pp. 15-22
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