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

Year Number of Results
1978 1
1987 1
1989 1
1990 1
1992 1
1993 1
1994 1
1996 1
1999 1
2000 2
2002 2
2004 1
2005 1
2006 1
2007 1
2009 1
2014 1
2015 1
2016 1
2017 1
2024 0

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PubMed (cited) for id: 613792

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Page 1
Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis.
Mattioli F, Schaefer E, Magee A, Mark P, Mancini GM, Dieterich K, Von Allmen G, Alders M, Coutton C, van Slegtenhorst M, Vieville G, Engelen M, Cobben JM, Juusola J, Pujol A, Mandel JL, Piton A. Mattioli F, et al. Am J Hum Genet. 2017 Jan 5;100(1):105-116. doi: 10.1016/j.ajhg.2016.11.010. Epub 2016 Dec 8. Am J Hum Genet. 2017. PMID: 27939639 Free PMC article.
Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome.
Kuechler A, Zink AM, Wieland T, Lüdecke HJ, Cremer K, Salviati L, Magini P, Najafi K, Zweier C, Czeschik JC, Aretz S, Endele S, Tamburrino F, Pinato C, Clementi M, Gundlach J, Maylahn C, Mazzanti L, Wohlleber E, Schwarzmayr T, Kariminejad R, Schlessinger A, Wieczorek D, Strom TM, Novarino G, Engels H. Kuechler A, et al. Eur J Hum Genet. 2015 Jun;23(6):753-60. doi: 10.1038/ejhg.2014.165. Epub 2014 Aug 20. Eur J Hum Genet. 2015. PMID: 25138099 Free PMC article.
Microarray based analysis of 3p25-p26 deletions (3p- syndrome).
Shuib S, McMullan D, Rattenberry E, Barber RM, Rahman F, Zatyka M, Chapman C, Macdonald F, Latif F, Davison V, Maher ER. Shuib S, et al. Am J Med Genet A. 2009 Oct;149A(10):2099-105. doi: 10.1002/ajmg.a.32824. Am J Med Genet A. 2009. PMID: 19760623
20 results