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Items: 15

1.

Autosomal dominant tubulointerstitial kidney disease-UMOD is the most frequent non polycystic genetic kidney disease.

Gast C, Marinaki A, Arenas-Hernandez M, Campbell S, Seaby EG, Pengelly RJ, Gale DP, Connor TM, Bunyan DJ, Hodaňová K, Živná M, Kmoch S, Ennis S, Venkat-Raman G.

BMC Nephrol. 2018 Oct 30;19(1):301. doi: 10.1186/s12882-018-1107-y.

2.

The Efficacy of Frontline Near-Peer Teaching in a Modern Medical Curriculum.

Harrison CH, Elmansouri A, Parton W, Myers MA, Hall S, Stephens JR, Seaby EG, Border S.

Anat Sci Educ. 2019 May;12(3):236-244. doi: 10.1002/ase.1827. Epub 2018 Oct 17.

PMID:
30332529
3.

The benefits of being a near-peer teacher.

Hall S, Harrison CH, Stephens J, Andrade MG, Seaby EG, Parton W, McElligott S, Myers MA, Elmansouri A, Ahn M, Parrott R, Smith CF, Border S.

Clin Teach. 2018 Oct;15(5):403-407. doi: 10.1111/tct.12784. Epub 2018 Mar 23.

PMID:
29573152
4.

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.

Hum Mutat. 2018 Feb;39(2):281-291. doi: 10.1002/humu.23373. Epub 2017 Dec 14.

PMID:
29193635
5.

Thrombotic microangiopathy following haematopoietic stem cell transplant.

Seaby EG, Gilbert RD.

Pediatr Nephrol. 2018 Sep;33(9):1489-1500. doi: 10.1007/s00467-017-3803-4. Epub 2017 Oct 9. Review.

6.

Unexpected Findings in a Child with Atypical Hemolytic Uremic Syndrome: An Example of How Genomics Is Changing the Clinical Diagnostic Paradigm.

Seaby EG, Gilbert RD, Andreoletti G, Pengelly RJ, Mercer C, Hunt D, Ennis S.

Front Pediatr. 2017 May 22;5:113. doi: 10.3389/fped.2017.00113. eCollection 2017.

7.

AMMECR1: a single point mutation causes developmental delay, midface hypoplasia and elliptocytosis.

Andreoletti G, Seaby EG, Dewing JM, O'Kelly I, Lachlan K, Gilbert RD, Ennis S.

J Med Genet. 2017 Apr;54(4):269-277. doi: 10.1136/jmedgenet-2016-104100. Epub 2016 Nov 3.

8.

Deleterious coding variants in multi-case families with non-syndromic cleft lip and/or palate phenotypes.

Pengelly RJ, Arias L, Martínez J, Upstill-Goddard R, Seaby EG, Gibson J, Ennis S, Collins A, Briceño I.

Sci Rep. 2016 Jul 26;6:30457. doi: 10.1038/srep30457.

9.

Mutations specific to the Rac-GEF domain of TRIO cause intellectual disability and microcephaly.

Pengelly RJ, Greville-Heygate S, Schmidt S, Seaby EG, Jabalameli MR, Mehta SG, Parker MJ, Goudie D, Fagotto-Kaufmann C, Mercer C; DDD Study, Debant A, Ennis S, Baralle D.

J Med Genet. 2016 Nov;53(11):735-742. doi: 10.1136/jmedgenet-2016-103942. Epub 2016 Jul 14.

10.

Commercial chicken breeds exhibit highly divergent patterns of linkage disequilibrium.

Pengelly RJ, Gheyas AA, Kuo R, Mossotto E, Seaby EG, Burt DW, Ennis S, Collins A.

Heredity (Edinb). 2016 Nov;117(5):375-382. doi: 10.1038/hdy.2016.47. Epub 2016 Jul 6.

11.

Progressive myoclonic epilepsy with Fanconi syndrome.

Seaby EG, Gilbert RD, Pengelly RJ, Andreoletti G, Clarke A, Ennis S.

JRSM Open. 2016 Jun 6;7(6):2054270415623145. doi: 10.1177/2054270415623145. eCollection 2016 Jun.

12.

Genome-wide Association Studies in Infectious Diseases.

Seaby EG, Wright VJ, Levin M.

Pediatr Infect Dis J. 2016 Jul;35(7):802-4. doi: 10.1097/INF.0000000000001183. Review. No abstract available.

13.

Can medical students accurately predict their learning? A study comparing perceived and actual performance in neuroanatomy.

Hall SR, Stephens JR, Seaby EG, Andrade MG, Lowry AF, Parton WJ, Smith CF, Border S.

Anat Sci Educ. 2016 Oct;9(5):488-95. doi: 10.1002/ase.1601. Epub 2016 Apr 1.

PMID:
27037749
14.

Exome sequencing explained: a practical guide to its clinical application.

Seaby EG, Pengelly RJ, Ennis S.

Brief Funct Genomics. 2016 Sep;15(5):374-84. doi: 10.1093/bfgp/elv054. Epub 2015 Dec 9. Review.

PMID:
26654982
15.

Collagen (COL4A) mutations are the most frequent mutations underlying adult focal segmental glomerulosclerosis.

Gast C, Pengelly RJ, Lyon M, Bunyan DJ, Seaby EG, Graham N, Venkat-Raman G, Ennis S.

Nephrol Dial Transplant. 2016 Jun;31(6):961-70. doi: 10.1093/ndt/gfv325. Epub 2015 Sep 7.

PMID:
26346198

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