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

Year Number of Results
1982 1
1983 1
1990 1
1992 1
1993 1
1999 1
2001 6
2002 1
2003 1
2005 1
2006 2
2007 2
2008 1
2009 2
2010 3
2011 2
2012 7
2013 5
2014 4
2015 2
2016 2
2017 2
2018 2
2019 2
2020 3
2021 2
2022 1
2024 1

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PubMed for id: 1772997

52 results

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Page 1
ECHS1 disease in two unrelated families of Samoan descent: Common variant - rare disorder.
Simon MT, Eftekharian SS, Ferdinandusse S, Tang S, Naseri T, Reupena MS, McGarvey ST, Minster RL, Weeks DE; Samoan Obesity, Lifestyle, and Genetic Adaptations (OLaGA) Study Group; Nguyen DD, Lee S, Ellsworth KA, Vaz FM, Dimmock D, Pitt J, Abdenur JE. Simon MT, et al. Am J Med Genet A. 2021 Jan;185(1):157-167. doi: 10.1002/ajmg.a.61936. Epub 2020 Oct 28. Am J Med Genet A. 2021. PMID: 33112498 Free PMC article.
A missense variant in FTCD is associated with arsenic metabolism and toxicity phenotypes in Bangladesh.
Pierce BL, Tong L, Dean S, Argos M, Jasmine F, Rakibuz-Zaman M, Sarwar G, Islam MT, Shahriar H, Islam T, Rahman M, Yunus M, Lynch VJ, Oglesbee D, Graziano JH, Kibriya MG, Gamble MV, Ahsan H. Pierce BL, et al. PLoS Genet. 2019 Mar 20;15(3):e1007984. doi: 10.1371/journal.pgen.1007984. eCollection 2019 Mar. PLoS Genet. 2019. PMID: 30893314 Free PMC article.
Clinical, biochemical, and genetic features of four patients with short-chain enoyl-CoA hydratase (ECHS1) deficiency.
Fitzsimons PE, Alston CL, Bonnen PE, Hughes J, Crushell E, Geraghty MT, Tetreault M, O'Reilly P, Twomey E, Sheikh Y, Walsh R, Waterham HR, Ferdinandusse S, Wanders RJA, Taylor RW, Pitt JJ, Mayne PD. Fitzsimons PE, et al. Am J Med Genet A. 2018 May;176(5):1115-1127. doi: 10.1002/ajmg.a.38658. Epub 2018 Mar 25. Am J Med Genet A. 2018. PMID: 29575569 Free PMC article.
52 results