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

Year Number of Results
1979 1
1980 1
1982 1
1986 2
1988 2
1989 2
1990 4
1991 1
1992 2
1993 2
1994 1
1996 2
1997 3
2000 1
2001 1
2002 4
2003 3
2004 3
2005 3
2006 1
2007 2
2008 4
2009 6
2010 9
2011 6
2012 6
2013 4
2014 4
2015 6
2016 3
2017 1
2018 6
2019 4
2020 3
2021 2
2022 1
2024 0

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Similar articles for PMID: 23125460

103 results

Results by year

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Page 1
Novel KIF7 mutations extend the phenotypic spectrum of acrocallosal syndrome.
Putoux A, Nampoothiri S, Laurent N, Cormier-Daire V, Beales PL, Schinzel A, Bartholdi D, Alby C, Thomas S, Elkhartoufi N, Ichkou A, Litzler J, Munnich A, Encha-Razavi F, Kannan R, Faivre L, Boddaert N, Rauch A, Vekemans M, Attié-Bitach T. Putoux A, et al. J Med Genet. 2012 Nov;49(11):713-20. doi: 10.1136/jmedgenet-2012-101016. J Med Genet. 2012. PMID: 23125460
Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling.
Asadollahi R, Strauss JE, Zenker M, Beuing O, Edvardson S, Elpeleg O, Strom TM, Joset P, Niedrist D, Otte C, Oneda B, Boonsawat P, Azzarello-Burri S, Bartholdi D, Papik M, Zweier M, Haas C, Ekici AB, Baumer A, Boltshauser E, Steindl K, Nothnagel M, Schinzel A, Stoeckli ET, Rauch A. Asadollahi R, et al. Eur J Hum Genet. 2018 Feb;26(2):197-209. doi: 10.1038/s41431-017-0019-9. Epub 2018 Jan 10. Eur J Hum Genet. 2018. PMID: 29321670 Free PMC article.
Schinzel acrocallosal syndrome.
Gulati S, Menon S, Kabra M, Kalra V. Gulati S, et al. Indian J Pediatr. 2003 Feb;70(2):173-6. doi: 10.1007/BF02723749. Indian J Pediatr. 2003. PMID: 12661815
Acrocallosal syndrome in a young hypertensive male.
Ramteke VV, Darole PA, Shaikh ZF, Padwal NJ, Agrawal B, Shrivastava MS, Kamath S. Ramteke VV, et al. BMJ Case Rep. 2011 May 3;2011:bcr1220103648. doi: 10.1136/bcr.12.2010.3648. BMJ Case Rep. 2011. PMID: 22696705 Free PMC article.
103 results