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

Year Number of Results
2002 6
2003 6
2004 4
2005 17
2006 3
2007 8
2008 9
2009 17
2010 18
2011 24
2012 29
2013 27
2014 18
2015 18
2016 13
2017 11
2018 15
2019 14
2020 13
2021 15
2022 17
2023 12
2024 7

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285 results

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Page 1
De novo variants in DENND5B cause a neurodevelopmental disorder.
Scala M, Tomati V, Ferla M, Lena M, Cohen JS, Fatemi A, Brokamp E, Bican A, Phillips JA 3rd, Koziura ME, Nicouleau M, Rio M, Siquier K, Boddaert N, Musante I, Tamburro S, Baldassari S, Iacomino M, Scudieri P; Undiagnosed Diseases Network; Rosenfeld JA, Bellus G, Reed S, Al Saif H, Russo RS, Walsh MB, Cantagrel V, Crunk A, Gustincich S, Ruggiero SM, Fitzgerald MP, Helbig I, Striano P, Severino M, Salpietro V, Pedemonte N, Zara F. Scala M, et al. Am J Hum Genet. 2024 Mar 7;111(3):529-543. doi: 10.1016/j.ajhg.2024.02.001. Epub 2024 Feb 21. Am J Hum Genet. 2024. PMID: 38387458 Free PMC article.
Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy.
Donkervoort S, Mohassel P, O'Leary M, Bonner DE, Hartley T, Acquaye N, Brull A, Mozaffar T, Saporta MA, Dyment DA, Sampson JB, Pajusalu S, Austin-Tse C, Hurth K, Cohen JS, McWalter K, Warman-Chardon J, Crunk A, Foley AR; Undiagnosed Diseases Network; Mammen AL, Wheeler MT, O'Donnell-Luria A, Bönnemann CG. Donkervoort S, et al. Ann Clin Transl Neurol. 2024 Mar;11(3):629-640. doi: 10.1002/acn3.51983. Epub 2024 Feb 4. Ann Clin Transl Neurol. 2024. PMID: 38311799 Free PMC article.
Metabolomic signatures of ideal cardiovascular health in black adults.
Islam SJ, Liu C, Mohandas AN, Rooney K, Nayak A, Mehta A, Ko YA, Kim JH, Sun YV, Dunbar SB, Lewis TT, Taylor HA, Uppal K, Jones DP, Quyyumi AA, Searles CD. Islam SJ, et al. Among authors: taylor ha. Sci Rep. 2024 Jan 20;14(1):1794. doi: 10.1038/s41598-024-51920-z. Sci Rep. 2024. PMID: 38245568 Free PMC article.
A multitrait genetic study of hemostatic factors and hemorrhagic transformation after stroke treatment.
Gallego-Fabrega C, Temprano-Sagrera G, Cárcel-Márquez J, Muiño E, Cullell N, Lledós M, Llucià-Carol L, Martin-Campos JM, Sobrino T, Castillo J, Millán M, Muñoz-Narbona L, López-Cancio E, Ribó M, Alvarez-Sabin J, Jiménez-Conde J, Roquer J, Tur S, Obach V, Arenillas JF, Segura T, Serrano-Heras G, Marti-Fabregas J, Freijo-Guerrero M, Moniche F, Castellanos MDM, Morrison AC, Smith NL, de Vries PS, Fernández-Cadenas I, Sabater-Lleal M; Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium; Spanish Stroke Genetic Consortium. Gallego-Fabrega C, et al. J Thromb Haemost. 2024 Apr;22(4):936-950. doi: 10.1016/j.jtha.2023.11.027. Epub 2023 Dec 15. J Thromb Haemost. 2024. PMID: 38103737 Free article.
285 results