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Results by year

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

Year Number of Results
1976 2
1977 2
1979 2
1981 4
1982 4
1983 3
1984 4
1985 5
1986 1
1987 5
1988 4
1989 2
1990 2
1991 8
1992 6
1993 5
1994 3
1995 3
1996 8
1997 5
1998 4
1999 7
2000 9
2001 7
2002 8
2003 6
2004 9
2005 11
2006 6
2007 9
2008 6
2009 11
2010 12
2011 4
2012 8
2013 9
2014 10
2015 6
2016 2
2017 5
2018 6
2019 8
2020 9
2021 5
2022 7
2023 4
2024 3

Text availability

Article attribute

Article type

Publication date

PubMed for id: 98156

256 results

Results by year

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Page 1
Novel insights into PORCN mutations, associated phenotypes and pathophysiological aspects.
Arlt A, Kohlschmidt N, Hentschel A, Bartels E, Groß C, Töpf A, Edem P, Szabo N, Sickmann A, Meyer N, Schara-Schmidt U, Lau J, Lochmüller H, Horvath R, Oktay Y, Roos A, Hiz S. Arlt A, et al. Orphanet J Rare Dis. 2022 Jan 31;17(1):29. doi: 10.1186/s13023-021-02068-w. Orphanet J Rare Dis. 2022. PMID: 35101074 Free PMC article.
A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome.
Cuvertino S, Hartill V, Colyer A, Garner T, Nair N, Al-Gazali L, Canham N, Faundes V, Flinter F, Hertecant J, Holder-Espinasse M, Jackson B, Lynch SA, Nadat F, Narasimhan VM, Peckham M, Sellers R, Seri M, Montanari F, Southgate L, Squeo GM, Trembath R, van Heel D, Venuto S, Weisberg D, Stals K, Ellard S; Genomics England Research Consortium; Barton A, Kimber SJ, Sheridan E, Merla G, Stevens A, Johnson CA, Banka S. Cuvertino S, et al. Genet Med. 2020 May;22(5):867-877. doi: 10.1038/s41436-019-0743-3. Epub 2020 Jan 17. Genet Med. 2020. PMID: 31949313 Free PMC article.
Microdeletion of the Down syndrome critical region at 21q22.
Fujita H, Torii C, Kosaki R, Yamaguchi S, Kudoh J, Hayashi K, Takahashi T, Kosaki K. Fujita H, et al. Am J Med Genet A. 2010 Apr;152A(4):950-3. doi: 10.1002/ajmg.a.33228. Am J Med Genet A. 2010. PMID: 20358607
256 results