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

Year Number of Results
2005 2
2006 2
2008 1
2009 2
2011 3
2012 1
2013 2
2015 3
2016 2
2017 5
2018 6
2019 3
2020 5
2021 4
2022 2
2024 0

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38 results

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Page 1
Tuberous sclerosis complex: a complex case.
Powell RM, Pattison S, Moravec JC, Bhat B, Guirguis N, Markie D, Jones GT, Copedo J, Print CG, Morison IM, Gavryushkin A, Gray B, Wyeth LJ, Eccles MR, Macaulay EC. Powell RM, et al. Among authors: markie d. Cold Spring Harb Mol Case Stud. 2022 Apr 28;8(3):a006182. doi: 10.1101/mcs.a006182. Print 2022 Apr. Cold Spring Harb Mol Case Stud. 2022. PMID: 35483879 Free PMC article.
Author Correction: Mutations in PYCR1 cause cutis laxa with progeroid features.
Reversade B, Escande-Beillard N, Dimopoulou A, Fischer B, Chng SC, Li Y, Shboul M, Tham PY, Kayserili H, Al-Gazali L, Shahwan M, Brancati F, Lee H, O'Connor BD, Kegler MS, Merriman B, Nelson SF, Masri A, Alkazaleh F, Guerra D, Ferrari P, Nanda A, Rajab A, Markie D, Gray M, Nelson J, Grix A, Sommer A, Savarirayan R, Janecke AR, Steichen E, Sillence D, Haußer I, Budde B, Nürnberg G, Nürnberg P, Seemann P, Kunkel D, Zambruno G, Dallapiccola B, Schuelke M, Robertson S, Hamamy H, Wollnik B, Van Maldergem L, Mundlos S, Kornak U. Reversade B, et al. Among authors: markie d. Nat Genet. 2022 Feb;54(2):213. doi: 10.1038/s41588-022-01013-2. Nat Genet. 2022. PMID: 35064218 Free article. No abstract available.
Correction to: Trans-ancestral dissection of urate- and gout-associated major loci SLC2A9 and ABCG2 reveals primate-specific regulatory effects.
Takei R, Cadzow M, Markie D, Bixley M, Phipps-Green A, Major TJ, Li C, Choi HK, Li Z, Hu H; Eurogout Consortium; Guo H, He M, Shi Y, Stamp LK, Dalbeth N, Merriman TR, Wei WH. Takei R, et al. Among authors: markie d. J Hum Genet. 2021 Feb;66(2):225. doi: 10.1038/s10038-020-00833-6. J Hum Genet. 2021. PMID: 32901114 No abstract available.
Wilms tumor in patients with osteopathia striata with cranial sclerosis.
Bach A, Mi J, Hunter M, Halliday BJ, García-Miñaúr S, Sperotto F, Trevisson E, Markie D, Morison IM, Shinawi M, Willis DN, Robertson SP. Bach A, et al. Among authors: markie d. Eur J Hum Genet. 2021 Mar;29(3):396-401. doi: 10.1038/s41431-020-00718-4. Epub 2020 Sep 2. Eur J Hum Genet. 2021. PMID: 32879452 Free PMC article.
Trans-ancestral dissection of urate- and gout-associated major loci SLC2A9 and ABCG2 reveals primate-specific regulatory effects.
Takei R, Cadzow M, Markie D, Bixley M, Phipps-Green A, Major TJ, Li C, Choi HK, Li Z, Hu H; Eurogout Consortium; Guo H, He M, Shi Y, Stamp LK, Dalbeth N, Merriman TR, Wei WH. Takei R, et al. Among authors: markie d. J Hum Genet. 2021 Feb;66(2):161-169. doi: 10.1038/s10038-020-0821-z. Epub 2020 Aug 10. J Hum Genet. 2021. PMID: 32778763
Missense Pathogenic variants in KIF4A Affect Dental Morphogenesis Resulting in X-linked Taurodontism, Microdontia and Dens-Invaginatus.
Gowans LJJ, Cameron-Christie S, Slayton RL, Busch T, Romero-Bustillos M, Eliason S, Sweat M, Sobreira N, Yu W, Kantaputra PN, Wohler E, Adeyemo WL, Lachke SA, Anand D, Campbell C, Drummond BK, Markie DM, van Vuuren WJ, van Vuuren LJ, Casamassimo PS, Ettinger R, Owais A, van Staden I, Amendt BA, Adeyemo AA, Murray JC, Robertson SP, Butali A. Gowans LJJ, et al. Among authors: markie dm. Front Genet. 2019 Sep 20;10:800. doi: 10.3389/fgene.2019.00800. eCollection 2019. Front Genet. 2019. PMID: 31616463 Free PMC article.
38 results