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A Role for Genetic Modifiers in Tubulointerstitial Kidney Diseases.
Leggatt GP, Seaby EG, Veighey K, Gast C, Gilbert RD, Ennis S. Leggatt GP, et al. Among authors: gilbert rd. Genes (Basel). 2023 Aug 3;14(8):1582. doi: 10.3390/genes14081582. Genes (Basel). 2023. PMID: 37628633 Free PMC article. Review.
Progressive myoclonic epilepsy with Fanconi syndrome.
Seaby EG, Gilbert RD, Pengelly RJ, Andreoletti G, Clarke A, Ennis S. Seaby EG, et al. Among authors: gilbert rd. JRSM Open. 2016 Jun 6;7(6):2054270415623145. doi: 10.1177/2054270415623145. eCollection 2016 Jun. JRSM Open. 2016. PMID: 27293772 Free PMC article.
Inactivation of AMMECR1 is associated with growth, bone, and heart alterations.
Moysés-Oliveira M, Giannuzzi G, Fish RJ, Rosenfeld JA, Petit F, Soares MF, Kulikowski LD, Di-Battista A, Zamariolli M, Xia F, Liehr T, Kosyakova N, Carvalheira G, Parker M, Seaby EG, Ennis S, Gilbert RD, Hagelstrom RT, Cremona ML, Li WL, Malhotra A, Chandrasekhar A, Perry DL, Taft RJ, McCarrier J, Basel DG, Andrieux J, Stumpp T, Antunes F, Pereira GJ, Neerman-Arbez M, Meloni VA, Drummond-Borg M, Melaragno MI, Reymond A. Moysés-Oliveira M, et al. Among authors: gilbert rd. Hum Mutat. 2018 Feb;39(2):281-291. doi: 10.1002/humu.23373. Epub 2017 Dec 14. Hum Mutat. 2018. PMID: 29193635
158 results