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Results by year

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

Year Number of Results
1972 1
1975 1
1977 1
1981 1
1982 1
1983 2
1984 2
1985 3
1986 3
1987 2
1988 2
1989 5
1990 5
1991 2
1992 3
1993 9
1994 4
1995 5
1996 5
1997 1
1998 5
1999 1
2000 6
2001 6
2002 3
2003 5
2004 8
2005 17
2006 9
2007 6
2008 8
2009 9
2010 9
2011 12
2012 12
2013 7
2014 10
2015 11
2016 10
2017 23
2018 20
2019 32
2020 32
2021 30
2022 40
2023 26
2024 13

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Article type

Publication date

PubMed for id: 66023

382 results

Results by year

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Page 1
Atypical COL3A1 variants (glutamic acid to lysine) cause vascular Ehlers-Danlos syndrome with a consistent phenotype of tissue fragility and skin hyperextensibility.
Ghali N, Baker D, Brady AF, Burrows N, Cervi E, Cilliers D, Frank M, Germain DP, Hulmes DJS, Jacquemont ML, Kannu P, Lefroy H, Legrand A, Pope FM, Robertson L, Vandersteen A, von Klemperer K, Warburton R, Whiteford M, van Dijk FS. Ghali N, et al. Genet Med. 2019 Sep;21(9):2081-2091. doi: 10.1038/s41436-019-0470-9. Epub 2019 Mar 6. Genet Med. 2019. PMID: 30837697 Free article.
Fibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skin.
Auer-Grumbach M, Weger M, Fink-Puches R, Papić L, Fröhlich E, Auer-Grumbach P, El Shabrawi-Caelen L, Schabhüttl M, Windpassinger C, Senderek J, Budka H, Trajanoski S, Janecke AR, Haas A, Metze D, Pieber TR, Guelly C. Auer-Grumbach M, et al. Brain. 2011 Jun;134(Pt 6):1839-52. doi: 10.1093/brain/awr076. Epub 2011 May 15. Brain. 2011. PMID: 21576112 Free PMC article.
382 results