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11 results
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Molecular analysis of region t(5;6)(q21;q21) in Wilms tumor.
Bruce CK, Howard P, Nowak NJ, Hoban PR. Bruce CK, et al. Cancer Genet Cytogenet. 2003 Mar;141(2):106-13. doi: 10.1016/s0165-4608(02)00669-6. Cancer Genet Cytogenet. 2003. PMID: 12606127
Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization.
Cullinane AR, Straatman-Iwanowska A, Zaucker A, Wakabayashi Y, Bruce CK, Luo G, Rahman F, Gürakan F, Utine E, Ozkan TB, Denecke J, Vukovic J, Di Rocco M, Mandel H, Cangul H, Matthews RP, Thomas SG, Rappoport JZ, Arias IM, Wolburg H, Knisely AS, Kelly DA, Müller F, Maher ER, Gissen P. Cullinane AR, et al. Among authors: bruce ck. Nat Genet. 2010 Apr;42(4):303-12. doi: 10.1038/ng.538. Epub 2010 Feb 28. Nat Genet. 2010. PMID: 20190753 Free PMC article.
Associations among genotype, clinical phenotype, and intracellular localization of trafficking proteins in ARC syndrome.
Smith H, Galmes R, Gogolina E, Straatman-Iwanowska A, Reay K, Banushi B, Bruce CK, Cullinane AR, Romero R, Chang R, Ackermann O, Baumann C, Cangul H, Cakmak Celik F, Aygun C, Coward R, Dionisi-Vici C, Sibbles B, Inward C, Kim CA, Klumperman J, Knisely AS, Watson SP, Gissen P. Smith H, et al. Among authors: bruce ck. Hum Mutat. 2012 Dec;33(12):1656-64. doi: 10.1002/humu.22155. Epub 2012 Aug 6. Hum Mutat. 2012. PMID: 22753090 Free PMC article.
Design and validation of a metabolic disorder resequencing microarray (BRUM1).
Bruce CK, Smith M, Rahman F, Liu ZF, McMullan DJ, Ball S, Hartley J, Kroos MA, Heptinstall L, Reuser AJ, Rolfs A, Hendriksz C, Kelly DA, Barrett TG, MacDonald F, Maher ER, Gissen P. Bruce CK, et al. Hum Mutat. 2010 Jul;31(7):858-65. doi: 10.1002/humu.21261. Hum Mutat. 2010. PMID: 20578233
Association of the thyroid stimulating hormone receptor gene (TSHR) with Graves' disease.
Brand OJ, Barrett JC, Simmonds MJ, Newby PR, McCabe CJ, Bruce CK, Kysela B, Carr-Smith JD, Brix T, Hunt PJ, Wiersinga WM, Hegedüs L, Connell J, Wass JA, Franklyn JA, Weetman AP, Heward JM, Gough SC. Brand OJ, et al. Among authors: bruce ck. Hum Mol Genet. 2009 May 1;18(9):1704-13. doi: 10.1093/hmg/ddp087. Epub 2009 Feb 25. Hum Mol Genet. 2009. PMID: 19244275
Bile acid-CoA ligase deficiency--a new inborn error of bile acid metabolism.
Chong CP, Mills PB, McClean P, Gissen P, Bruce C, Stahlschmidt J, Knisely AS, Clayton PT. Chong CP, et al. J Inherit Metab Dis. 2012 May;35(3):521-30. doi: 10.1007/s10545-011-9416-3. Epub 2011 Nov 17. J Inherit Metab Dis. 2012. PMID: 22089923
Mutation detection in cholestatic patients using microarray resequencing of ATP8B1 and ABCB11.
McKay KE, Bruce CK, Hartley JL, Knisely AS, Baumann U, Bockisch SS, Sturm E, Hendriksz CJ, Kelly DA, Macdonald F, Gissen P. McKay KE, et al. Among authors: bruce ck. F1000Res. 2013 Feb 6;2:32. doi: 10.12688/f1000research.2-32.v2. eCollection 2013. F1000Res. 2013. PMID: 24627769 Free PMC article.
[No authors listed] [No authors listed] PMID: 24634747
Issues surrounding standard cytotoxicity testing for assessing activity of non-covalent DNA-binding metallo-drugs.
Pope AJ, Bruce C, Kysela B, Hannon MJ. Pope AJ, et al. Dalton Trans. 2010 Mar 21;39(11):2772-4. doi: 10.1039/b927129p. Epub 2010 Feb 5. Dalton Trans. 2010. PMID: 20200702
Intracellular synchrotron nanoimaging and DNA damage/genotoxicity screening of novel lanthanide-coated nanovectors.
Lewis DJ, Bruce C, Bohic S, Cloetens P, Hammond SP, Arbon D, Blair-Reid S, Pikramenou Z, Kysela B. Lewis DJ, et al. Nanomedicine (Lond). 2010 Dec;5(10):1547-57. doi: 10.2217/nnm.10.96. Epub 2010 Sep 29. Nanomedicine (Lond). 2010. PMID: 20879836
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