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Year Number of Results
2010 1
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2014 3
2015 1
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2018 4
2019 3
2020 1
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Page 1
Mouse genetics reveals Barttin as a genetic modifier of Joubert syndrome.
Ramsbottom SA, Thelwall PE, Wood KM, Clowry GJ, Devlin LA, Silbermann F, Spiewak HL, Shril S, Molinari E, Hildebrandt F, Gunay-Aygun M, Saunier S, Cordell HJ, Sayer JA, Miles CG. Ramsbottom SA, et al. Proc Natl Acad Sci U S A. 2020 Jan 14;117(2):1113-1118. doi: 10.1073/pnas.1912602117. Epub 2019 Dec 26. Proc Natl Acad Sci U S A. 2020. PMID: 31879347 Free PMC article.
ARL3 Mutations Cause Joubert Syndrome by Disrupting Ciliary Protein Composition.
Alkanderi S, Molinari E, Shaheen R, Elmaghloob Y, Stephen LA, Sammut V, Ramsbottom SA, Srivastava S, Cairns G, Edwards N, Rice SJ, Ewida N, Alhashem A, White K, Miles CG, Steel DH, Alkuraya FS, Ismail S, Sayer JA. Alkanderi S, et al. Among authors: ramsbottom sa. Am J Hum Genet. 2018 Oct 4;103(4):612-620. doi: 10.1016/j.ajhg.2018.08.015. Epub 2018 Sep 27. Am J Hum Genet. 2018. PMID: 30269812 Free PMC article.
A CEP104-CSPP1 Complex Is Required for Formation of Primary Cilia Competent in Hedgehog Signaling.
Frikstad KM, Molinari E, Thoresen M, Ramsbottom SA, Hughes F, Letteboer SJF, Gilani S, Schink KO, Stokke T, Geimer S, Pedersen LB, Giles RH, Akhmanova A, Roepman R, Sayer JA, Patzke S. Frikstad KM, et al. Among authors: ramsbottom sa. Cell Rep. 2019 Aug 13;28(7):1907-1922.e6. doi: 10.1016/j.celrep.2019.07.025. Cell Rep. 2019. PMID: 31412255 Free PMC article.
Gsx transcription factors repress Iroquois gene expression.
Winterbottom EF, Ramsbottom SA, Isaacs HV. Winterbottom EF, et al. Among authors: ramsbottom sa. Dev Dyn. 2011 Jun;240(6):1422-9. doi: 10.1002/dvdy.22648. Epub 2011 Apr 29. Dev Dyn. 2011. PMID: 21538683 Free article.
19 results