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

Year Number of Results
1993 2
2001 1
2002 3
2003 1
2004 5
2005 2
2006 1
2008 1
2009 3
2010 2
2011 2
2012 1
2013 2
2014 1
2015 5
2016 2
2017 2
2018 2
2019 3
2020 6
2021 7
2022 4
2023 2
2024 0

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PubMed for id: 25839

51 results

Results by year

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Page 1
Growth in individuals with Saul-Wilson syndrome.
Ferreira CR, Niiler T, Duker AL, Jackson AP, Bober MB. Ferreira CR, et al. Am J Med Genet A. 2020 Sep;182(9):2110-2116. doi: 10.1002/ajmg.a.61754. Epub 2020 Jul 11. Am J Med Genet A. 2020. PMID: 32652690 Free PMC article.
Saul-Wilson Syndrome.
Ferreira C. Ferreira C. 2020 Feb 20. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2020 Feb 20. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 32078278 Free Books & Documents. Review.
A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation.
Ferreira CR, Xia ZJ, Clément A, Parry DA, Davids M, Taylan F, Sharma P, Turgeon CT, Blanco-Sánchez B, Ng BG, Logan CV, Wolfe LA, Solomon BD, Cho MT, Douglas G, Carvalho DR, Bratke H, Haug MG, Phillips JB, Wegner J, Tiemeyer M, Aoki K; Undiagnosed Diseases Network; Scottish Genome Partnership; Nordgren A, Hammarsjö A, Duker AL, Rohena L, Hove HB, Ek J, Adams D, Tifft CJ, Onyekweli T, Weixel T, Macnamara E, Radtke K, Powis Z, Earl D, Gabriel M, Russi AHS, Brick L, Kozenko M, Tham E, Raymond KM, Phillips JA 3rd, Tiller GE, Wilson WG, Hamid R, Malicdan MCV, Nishimura G, Grigelioniene G, Jackson A, Westerfield M, Bober MB, Gahl WA, Freeze HH. Ferreira CR, et al. Am J Hum Genet. 2018 Oct 4;103(4):553-567. doi: 10.1016/j.ajhg.2018.09.003. Am J Hum Genet. 2018. PMID: 30290151 Free PMC article.
Membrane detachment is not essential for COG complex function.
Climer LK, Pokrovskaya ID, Blackburn JB, Lupashin VV. Climer LK, et al. Mol Biol Cell. 2018 Apr 15;29(8):964-974. doi: 10.1091/mbc.E17-11-0694. Epub 2018 Mar 30. Mol Biol Cell. 2018. PMID: 29467253 Free PMC article.
51 results