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Results: 1-10 |
Results: 10
A novel mutation in the endothelin B receptor gene in a patient with Shah-Waardenburg syndrome and Down syndrome
Authors: Boardman, JP Syrris, P Holder, SE Robertson, NJ Carter, N Lakhoo, K
Citation: Jp. Boardman et al., A novel mutation in the endothelin B receptor gene in a patient with Shah-Waardenburg syndrome and Down syndrome, J MED GENET, 38(9), 2001, pp. 646-647
Mutation detection in long QT syndrome: a comprehensive set of primers andPCR conditions
Authors: Syrris, P Murray, A Carter, ND McKenna, WM Jeffery, S
Citation: P. Syrris et al., Mutation detection in long QT syndrome: a comprehensive set of primers andPCR conditions, J MED GENET, 38(10), 2001, pp. 705-710
Three novel mutations of the proto-oncogene KIT cause human piebaldism
Authors: Syrris, P Malik, NM Murday, VA Patton, MA Carter, ND Hughes, HE Metcalfe, K
Citation: P. Syrris et al., Three novel mutations of the proto-oncogene KIT cause human piebaldism, AM J MED G, 95(1), 2000, pp. 79-81
A connexin 26 mutation causes a syndrome of sensorineural hearing loss andpalmoplantar hyperkeratosis (MIM 148350)
Authors: Heathcote, K Syrris, P Carter, ND Patton, MA
Citation: K. Heathcote et al., A connexin 26 mutation causes a syndrome of sensorineural hearing loss andpalmoplantar hyperkeratosis (MIM 148350), J MED GENET, 37(1), 2000, pp. 50-51
Possible different involvement of interleukin-1 receptor antagonist gene polymorphism in coronary single vessel disease and myocardial infarction - Response
Authors: Crossman, DC Francis, SE Camp, NJ Dewberry, RM Gunn, J Cumberland, DC Duff, GW Syrris, P Carter, ND Jeffery, S Kaski, JC
Citation: Dc. Crossman et al., Possible different involvement of interleukin-1 receptor antagonist gene polymorphism in coronary single vessel disease and myocardial infarction - Response, CIRCULATION, 101(18), 2000, pp. E193-E193
Novel nonsense mutation of the endothelin-B receptor gene in a family withWaardenburg-Hirschsprung disease
Authors: Syrris, P Carter, ND Patton, MA
Citation: P. Syrris et al., Novel nonsense mutation of the endothelin-B receptor gene in a family withWaardenburg-Hirschsprung disease, AM J MED G, 87(1), 1999, pp. 69-71
Interleukin-1 receptor antagonist gene polymorphism and coronary artery disease
Authors: Francis, SE Camp, NJ Dewberry, RM Gunn, J Syrris, P Carter, ND Jeffery, S Kaski, JC Cumberland, DC Duff, GW Crossman, DC
Citation: Se. Francis et al., Interleukin-1 receptor antagonist gene polymorphism and coronary artery disease, CIRCULATION, 99(7), 1999, pp. 861-866
Splicing mutations in KCNQ1 - A mutation hot spot at codon 344 that produces in frame transcripts
Authors: Murray, A Donger, C Fenske, C Spillman, I Richard, P Dong, YB Neyroud, N Chevalier, P Denjoy, I Carter, N Syrris, P Afzal, AR Patton, MA Guicheney, P Jeffery, S
Citation: A. Murray et al., Splicing mutations in KCNQ1 - A mutation hot spot at codon 344 that produces in frame transcripts, CIRCULATION, 100(10), 1999, pp. 1077-1084
Lack of c-kit mutation in familial urticaria pigmentosa
Authors: Rosbotham, JL Malik, NM Syrris, P Jeffery, S Bedlow, A Gharraie, S Murday, VA Holden, CA Carter, ND
Citation: Jl. Rosbotham et al., Lack of c-kit mutation in familial urticaria pigmentosa, BR J DERM, 140(5), 1999, pp. 849-852
Transforming growth factor-beta gene polymorphisms and coronary artery disease
Authors: Syrris, P Carter, ND Metcalfe, JC Kemp, PR Grainger, DJ Kaski, JC Crossman, DC Francis, SE Gunn, J Jeffrey, S Heathcote, K
Citation: P. Syrris et al., Transforming growth factor-beta gene polymorphisms and coronary artery disease, CLIN SCI, 95(6), 1998, pp. 659-667
Risultati: 1-10 |