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2014 | 2 |
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Page 1
Loss of Bardet-Biedl syndrome proteins causes synaptic aberrations in principal neurons.
PLoS Biol. 2019 Sep 3;17(9):e3000414. doi: 10.1371/journal.pbio.3000414. eCollection 2019 Sep.
PLoS Biol. 2019.
PMID: 31479441
Free PMC article.
Correction: Loss of Bardet-Biedl syndrome proteins causes synaptic aberrations in principal neurons.
Haq N, Schmidt-Hieber C, Sialana FJ, Ciani L, Heller JP, Stewart M, Bentley L, Wells S, Rodenburg RJ, Nolan PM, Forsythe E, Wu MC, Lubec G, Salinas PC, Häusser M, Beales PL, Christou-Savina S.
Haq N, et al. Among authors: christou savina s.
PLoS Biol. 2019 Oct 8;17(10):e3000520. doi: 10.1371/journal.pbio.3000520. eCollection 2019 Oct.
PLoS Biol. 2019.
PMID: 31593567
Free PMC article.
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Evaluation of zebrafish kidney function using a fluorescent clearance assay.
Christou-Savina S, Beales PL, Osborn DP.
Christou-Savina S, et al.
J Vis Exp. 2015 Feb 20;(96):e52540. doi: 10.3791/52540.
J Vis Exp. 2015.
PMID: 25742415
Free PMC article.
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The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes.
Waters AM, Asfahani R, Carroll P, Bicknell L, Lescai F, Bright A, Chanudet E, Brooks A, Christou-Savina S, Osman G, Walsh P, Bacchelli C, Chapgier A, Vernay B, Bader DM, Deshpande C, O' Sullivan M, Ocaka L, Stanescu H, Stewart HS, Hildebrandt F, Otto E, Johnson CA, Szymanska K, Katsanis N, Davis E, Kleta R, Hubank M, Doxsey S, Jackson A, Stupka E, Winey M, Beales PL.
Waters AM, et al. Among authors: christou savina s.
J Med Genet. 2015 Mar;52(3):147-56. doi: 10.1136/jmedgenet-2014-102691. Epub 2015 Jan 6.
J Med Genet. 2015.
PMID: 25564561
Free PMC article.
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Ciliary dysfunction impairs beta-cell insulin secretion and promotes development of type 2 diabetes in rodents.
Gerdes JM, Christou-Savina S, Xiong Y, Moede T, Moruzzi N, Karlsson-Edlund P, Leibiger B, Leibiger IB, Östenson CG, Beales PL, Berggren PO.
Gerdes JM, et al. Among authors: christou savina s.
Nat Commun. 2014 Nov 6;5:5308. doi: 10.1038/ncomms6308.
Nat Commun. 2014.
PMID: 25374274
Free article.
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Loss of FTO antagonises Wnt signaling and leads to developmental defects associated with ciliopathies.
Osborn DP, Roccasecca RM, McMurray F, Hernandez-Hernandez V, Mukherjee S, Barroso I, Stemple D, Cox R, Beales PL, Christou-Savina S.
Osborn DP, et al. Among authors: christou savina s.
PLoS One. 2014 Feb 4;9(2):e87662. doi: 10.1371/journal.pone.0087662. eCollection 2014.
PLoS One. 2014.
PMID: 24503721
Free PMC article.
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Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy.
Schmidts M, Vodopiutz J, Christou-Savina S, Cortés CR, McInerney-Leo AM, Emes RD, Arts HH, Tüysüz B, D'Silva J, Leo PJ, Giles TC, Oud MM, Harris JA, Koopmans M, Marshall M, Elçioglu N, Kuechler A, Bockenhauer D, Moore AT, Wilson LC, Janecke AR, Hurles ME, Emmet W, Gardiner B, Streubel B, Dopita B, Zankl A, Kayserili H, Scambler PJ, Brown MA, Beales PL, Wicking C; UK10K; Duncan EL, Mitchison HM.
Schmidts M, et al. Among authors: christou savina s.
Am J Hum Genet. 2013 Nov 7;93(5):932-44. doi: 10.1016/j.ajhg.2013.10.003. Epub 2013 Oct 31.
Am J Hum Genet. 2013.
PMID: 24183451
Free PMC article.
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