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Results by year

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

Year Number of Results
1975 2
1977 1
1979 2
1980 2
1983 1
1984 2
1985 3
1986 1
1987 3
1988 2
1989 3
1990 1
1991 1
1992 1
1993 1
1994 3
1995 1
1996 1
1997 1
1998 1
1999 5
2000 1
2001 4
2002 3
2003 3
2004 7
2005 7
2006 5
2007 6
2008 1
2009 3
2010 4
2011 5
2012 6
2013 8
2014 8
2015 8
2016 6
2017 2
2018 18
2019 82
2020 98
2021 101
2022 95
2023 62
2024 12

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Article type

Publication date

PubMed for id: 9232

500 results

Results by year

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Page 1
PLS3 missense variants affecting the actin-binding domains cause X-linked congenital diaphragmatic hernia and body-wall defects.
Petit F, Longoni M, Wells J, Maser RS, Bogenschutz EL, Dysart MJ, Contreras HTM, Frénois F, Pober BR, Clark RD, Giampietro PF, Ropers HH, Hu H, Loscertales M, Wagner R, Ai X, Brand H, Jourdain AS, Delrue MA, Gilbert-Dussardier B, Devisme L, Keren B, McCulley DJ, Qiao L, Hernan R, Wynn J, Scott TM, Calame DG, Coban-Akdemir Z, Hernandez P, Hernandez-Garcia A, Yonath H, Lupski JR, Shen Y, Chung WK, Scott DA, Bult CJ, Donahoe PK, High FA. Petit F, et al. Am J Hum Genet. 2023 Oct 5;110(10):1787-1803. doi: 10.1016/j.ajhg.2023.09.002. Epub 2023 Sep 25. Am J Hum Genet. 2023. PMID: 37751738 Free PMC article.
Börjeson-Forssman-Lehmann syndrome: delineating the clinical and allelic spectrum in 14 new families.
Jain V, Foo SH, Chooi S, Moss C, Goodwin R, Berland S, Clarke AJ, Davies SJ, Corrin S, Murch O, Doyle S, Graham GE, Greenhalgh L, Holder SE, Johnson D, Kumar A, Ladda RL, Sell S, Begtrup A, Lynch SA, McCann E, Østern R, Pottinger C, Splitt M, Fry AE. Jain V, et al. Eur J Hum Genet. 2023 Dec;31(12):1421-1429. doi: 10.1038/s41431-023-01447-0. Epub 2023 Sep 14. Eur J Hum Genet. 2023. PMID: 37704779 Free PMC article.
Focal Dermal Hypoplasia with Osteopathia Striata.
Almashaqbeh SS, Aljammal DS, Alharahsheh HM, Alqudah SF, Alkrimeen RA. Almashaqbeh SS, et al. Med Arch. 2022 Aug;76(4):301-304. doi: 10.5455/medarh.2022.76.301-304. Med Arch. 2022. PMID: 36313953 Free PMC article.
500 results