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

Year Number of Results
2005 1
2006 1
2007 2
2010 2
2011 4
2012 4
2013 3
2014 2
2015 4
2016 4
2017 4
2018 2
2019 4
2020 6
2021 9
2022 2
2023 3
2024 0

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50 results

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Page 1
Genotype, extrapyramidal features, and severity of variant ataxia-telangiectasia.
Schon K, van Os NJH, Oscroft N, Baxendale H, Scoffings D, Ray J, Suri M, Whitehouse WP, Mehta PR, Everett N, Bottolo L, van de Warrenburg BP, Byrd PJ, Weemaes C, Willemsen MA, Tischkowitz M, Taylor AM, Hensiek AE. Schon K, et al. Among authors: bottolo l. Ann Neurol. 2019 Feb;85(2):170-180. doi: 10.1002/ana.25394. Ann Neurol. 2019. PMID: 30549301 Free PMC article.
The penetrance of rare variants in cardiomyopathy-associated genes: A cross-sectional approach to estimating penetrance for secondary findings.
McGurk KA, Zhang X, Theotokis P, Thomson K, Harper A, Buchan RJ, Mazaika E, Ormondroyd E, Wright WT, Macaya D, Pua CJ, Funke B, MacArthur DG, Prasad SK, Cook SA, Allouba M, Aguib Y, Yacoub MH, O'Regan DP, Barton PJR, Watkins H, Bottolo L, Ware JS. McGurk KA, et al. Among authors: bottolo l. Am J Hum Genet. 2023 Sep 7;110(9):1482-1495. doi: 10.1016/j.ajhg.2023.08.003. Epub 2023 Aug 30. Am J Hum Genet. 2023. PMID: 37652022 Free PMC article.
Leptin-Mediated Changes in the Human Metabolome.
Lawler K, Huang-Doran I, Sonoyama T, Collet TH, Keogh JM, Henning E, O'Rahilly S, Bottolo L, Farooqi IS. Lawler K, et al. Among authors: bottolo l. J Clin Endocrinol Metab. 2020 Aug 1;105(8):2541-52. doi: 10.1210/clinem/dgaa251. J Clin Endocrinol Metab. 2020. PMID: 32392278 Free PMC article. Clinical Trial.
MethylCal: Bayesian calibration of methylation levels.
Ochoa E, Zuber V, Fernandez-Jimenez N, Bilbao JR, Clark GR, Maher ER, Bottolo L. Ochoa E, et al. Among authors: bottolo l. Nucleic Acids Res. 2019 Aug 22;47(14):e81. doi: 10.1093/nar/gkz325. Nucleic Acids Res. 2019. PMID: 31049595 Free PMC article.
Wars2 is a determinant of angiogenesis.
Wang M, Sips P, Khin E, Rotival M, Sun X, Ahmed R, Widjaja AA, Schafer S, Yusoff P, Choksi PK, Ko NS, Singh MK, Epstein D, Guan Y, Houštěk J, Mracek T, Nuskova H, Mikell B, Tan J, Pesce F, Kolar F, Bottolo L, Mancini M, Hubner N, Pravenec M, Petretto E, MacRae C, Cook SA. Wang M, et al. Among authors: bottolo l. Nat Commun. 2016 Jul 8;7:12061. doi: 10.1038/ncomms12061. Nat Commun. 2016. PMID: 27389904 Free PMC article.
Metabolic effects of bezafibrate in mitochondrial disease.
Steele H, Gomez-Duran A, Pyle A, Hopton S, Newman J, Stefanetti RJ, Charman SJ, Parikh JD, He L, Viscomi C, Jakovljevic DG, Hollingsworth KG, Robinson AJ, Taylor RW, Bottolo L, Horvath R, Chinnery PF. Steele H, et al. Among authors: bottolo l. EMBO Mol Med. 2020 Mar 6;12(3):e11589. doi: 10.15252/emmm.201911589. Epub 2020 Feb 28. EMBO Mol Med. 2020. PMID: 32107855 Free PMC article.
50 results