Items where authors include "Maher, E.R."

Article

Wong, K., Pitcher, D., Braddon, F. et al. (294 more authors) (2024) Effects of rare kidney diseases on kidney failure: a longitudinal analysis of the UK National Registry of Rare Kidney Diseases (RaDaR) cohort. The Lancet, 403 (10433). pp. 1279-1289. ISSN 0140-6736

Lee, S., Ochoa, E., Badura-Stronka, M. et al. (12 more authors) (2023) Germline pathogenic variants in HNRNPU are associated with alterations in blood methylome. European Journal of Human Genetics, 31 (9). pp. 1040-1047. ISSN 1018-4813

Williams, S.T., Chatzikyriakou, P., Carroll, P.V. et al. (34 more authors) (2022) SDHC phaeochromocytoma and paraganglioma: A UK‐wide case series. Clinical Endocrinology, 96 (4). pp. 499-512. ISSN 0300-0664

Hill, V.K., Shinawi, T., Ricketts, C.J. et al. (7 more authors) (2014) Stability of the CpG island methylator phenotype during glioma progression and identification of methylated loci in secondary glioblastomas. BMC Cancer, 14. p. 506. ISSN 1471-2407

Ricketts, C.J., Morris, M.R., Gentle, D. et al. (7 more authors) (2013) Methylation profiling and evaluation of demethylating therapy in renal cell carcinoma. Clin Epigenetics, 5. 16. ISSN 1868-7075

Lynex, C.N., Carr, I.M., Leek, J.P. et al. (6 more authors) (2004) Homozygosity for a missense mutation in the 67 kDa isoform of glutamate decarboxylase in a family with autosomal recessive spastic cerebral palsy: parallels with Stiff-Person Syndrome and other movement disorders. BMC Neurology, 4 (20). ISSN 1471-2377