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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2002 2
2003 4
2004 6
2005 6
2006 4
2007 5
2008 7
2009 7
2010 7
2011 9
2012 12
2013 16
2014 14
2015 7
2016 7
2017 7
2018 6
2019 6
2020 4
2021 3
2022 1
2023 5
2024 1

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131 results

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Page 1
Bardet-Biedl syndrome.
Forsythe E, Beales PL. Forsythe E, et al. Among authors: beales pl. Eur J Hum Genet. 2013 Jan;21(1):8-13. doi: 10.1038/ejhg.2012.115. Epub 2012 Jun 20. Eur J Hum Genet. 2013. PMID: 22713813 Free PMC article.
An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes.
Wheway G, Schmidts M, Mans DA, Szymanska K, Nguyen TT, Racher H, Phelps IG, Toedt G, Kennedy J, Wunderlich KA, Sorusch N, Abdelhamed ZA, Natarajan S, Herridge W, van Reeuwijk J, Horn N, Boldt K, Parry DA, Letteboer SJF, Roosing S, Adams M, Bell SM, Bond J, Higgins J, Morrison EE, Tomlinson DC, Slaats GG, van Dam TJP, Huang L, Kessler K, Giessl A, Logan CV, Boyle EA, Shendure J, Anazi S, Aldahmesh M, Al Hazzaa S, Hegele RA, Ober C, Frosk P, Mhanni AA, Chodirker BN, Chudley AE, Lamont R, Bernier FP, Beaulieu CL, Gordon P, Pon RT, Donahue C, Barkovich AJ, Wolf L, Toomes C, Thiel CT, Boycott KM, McKibbin M, Inglehearn CF; UK10K Consortium; University of Washington Center for Mendelian Genomics; Stewart F, Omran H, Huynen MA, Sergouniotis PI, Alkuraya FS, Parboosingh JS, Innes AM, Willoughby CE, Giles RH, Webster AR, Ueffing M, Blacque O, Gleeson JG, Wolfrum U, Beales PL, Gibson T, Doherty D, Mitchison HM, Roepman R, Johnson CA. Wheway G, et al. Among authors: beales pl. Nat Cell Biol. 2015 Aug;17(8):1074-1087. doi: 10.1038/ncb3201. Epub 2015 Jul 13. Nat Cell Biol. 2015. PMID: 26167768 Free PMC article.
The nonmotile ciliopathies.
Tobin JL, Beales PL. Tobin JL, et al. Among authors: beales pl. Genet Med. 2009 Jun;11(6):386-402. doi: 10.1097/GIM.0b013e3181a02882. Genet Med. 2009. PMID: 19421068 Free article. Review.
Genetic obesity syndromes.
Goldstone AP, Beales PL. Goldstone AP, et al. Among authors: beales pl. Front Horm Res. 2008;36:37-60. doi: 10.1159/000115336. Front Horm Res. 2008. PMID: 18230893 Review.
IFT74 variants cause skeletal ciliopathy and motile cilia defects in mice and humans.
Bakey Z, Cabrera OA, Hoefele J, Antony D, Wu K, Stuck MW, Micha D, Eguether T, Smith AO, van der Wel NN, Wagner M, Strittmatter L, Beales PL, Jonassen JA, Thiffault I, Cadieux-Dion M, Boyes L, Sharif S, Tüysüz B, Dunstheimer D, Niessen HWM, Devine W, Lo CW, Mitchison HM, Schmidts M, Pazour GJ. Bakey Z, et al. Among authors: beales pl. PLoS Genet. 2023 Jun 14;19(6):e1010796. doi: 10.1371/journal.pgen.1010796. eCollection 2023 Jun. PLoS Genet. 2023. PMID: 37315079 Free PMC article.
Toward personalized medicine in Bardet-Biedl syndrome.
Kenny J, Forsythe E, Beales P, Bacchelli C. Kenny J, et al. Among authors: beales p. Per Med. 2017 Sep;14(5):447-456. doi: 10.2217/pme-2017-0019. Epub 2017 Sep 4. Per Med. 2017. PMID: 29754569 Review.
Managing Bardet-Biedl Syndrome-Now and in the Future.
Forsythe E, Kenny J, Bacchelli C, Beales PL. Forsythe E, et al. Among authors: beales pl. Front Pediatr. 2018 Feb 13;6:23. doi: 10.3389/fped.2018.00023. eCollection 2018. Front Pediatr. 2018. PMID: 29487844 Free PMC article. Review.
Modelling renal defects in Bardet-Biedl syndrome patients using human iPS cells.
Williams J, Hurling C, Munir S, Harley P, Machado CB, Cujba AM, Alvarez-Fallas M, Danovi D, Lieberam I, Sancho R, Beales P, Watt FM. Williams J, et al. Among authors: beales p. Front Cell Dev Biol. 2023 Jun 2;11:1163825. doi: 10.3389/fcell.2023.1163825. eCollection 2023. Front Cell Dev Biol. 2023. PMID: 37333983 Free PMC article.
Ciliopathies: an expanding disease spectrum.
Waters AM, Beales PL. Waters AM, et al. Among authors: beales pl. Pediatr Nephrol. 2011 Jul;26(7):1039-56. doi: 10.1007/s00467-010-1731-7. Epub 2011 Jan 6. Pediatr Nephrol. 2011. PMID: 21210154 Free PMC article. Review.
Bardet-Biedl syndrome: beyond the cilium.
Tobin JL, Beales PL. Tobin JL, et al. Among authors: beales pl. Pediatr Nephrol. 2007 Jul;22(7):926-36. doi: 10.1007/s00467-007-0435-0. Epub 2007 Mar 15. Pediatr Nephrol. 2007. PMID: 17357787 Free PMC article. Review.
131 results