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Results by year

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

Year Number of Results
1993 1
1996 1
2000 1
2002 1
2003 1
2004 2
2005 2
2006 1
2007 1
2008 1
2010 1
2011 1
2012 2
2013 2
2014 2
2015 1
2016 4
2017 5
2018 5
2019 4
2020 4
2021 5
2022 3
2024 0

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PubMed for id: 57724

42 results

Results by year

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Page 1
EPG5-Related Disorder.
Dafsari HS, Ebrahimi-Fakhari D, Saffari A, Deneubourg C, Fanto M, Jungbluth H. Dafsari HS, et al. 2022 Oct 13. 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. 2022 Oct 13. 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: 36228046 Free Books & Documents. Review.
Autopsy findings in EPG5-related Vici syndrome with antenatal onset.
Touraine R, Laquerrière A, Petcu CA, Marguet F, Byrne S, Mein R, Yau S, Mohammed S, Guibaud L, Gautel M, Jungbluth H. Touraine R, et al. Am J Med Genet A. 2017 Sep;173(9):2522-2527. doi: 10.1002/ajmg.a.38342. Epub 2017 Jul 27. Am J Med Genet A. 2017. PMID: 28748650 Free article.
Defects in autophagosome-lysosome fusion underlie Vici syndrome, a neurodevelopmental disorder with multisystem involvement.
Hori I, Otomo T, Nakashima M, Miya F, Negishi Y, Shiraishi H, Nonoda Y, Magara S, Tohyama J, Okamoto N, Kumagai T, Shimoda K, Yukitake Y, Kajikawa D, Morio T, Hattori A, Nakagawa M, Ando N, Nishino I, Kato M, Tsunoda T, Saitsu H, Kanemura Y, Yamasaki M, Kosaki K, Matsumoto N, Yoshimori T, Saitoh S. Hori I, et al. Sci Rep. 2017 Jun 14;7(1):3552. doi: 10.1038/s41598-017-02840-8. Sci Rep. 2017. PMID: 28615637 Free PMC article.
42 results