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Results by year

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

Year Number of Results
1977 1
1985 1
1988 1
1989 2
1990 1
1991 1
1993 3
1994 3
1995 2
1996 2
1997 2
1998 1
1999 1
2000 2
2002 4
2003 4
2005 5
2006 2
2007 3
2008 5
2009 5
2010 3
2011 2
2012 6
2013 5
2014 2
2015 6
2016 7
2017 9
2018 8
2019 5
2020 11
2021 5
2022 14
Text availability
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Similar articles for PMID: 20595373

120 results
Results by year
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Page 1
Neuroradiologic features of CASK mutations.
Takanashi J, Arai H, Nabatame S, Hirai S, Hayashi S, Inazawa J, Okamoto N, Barkovich AJ. Takanashi J, et al. AJNR Am J Neuroradiol. 2010 Oct;31(9):1619-22. doi: 10.3174/ajnr.A2173. Epub 2010 Jul 1. AJNR Am J Neuroradiol. 2010. PMID: 20595373 Free PMC article.
Phenotypic spectrum associated with CASK loss-of-function mutations.
Moog U, Kutsche K, Kortüm F, Chilian B, Bierhals T, Apeshiotis N, Balg S, Chassaing N, Coubes C, Das S, Engels H, Van Esch H, Grasshoff U, Heise M, Isidor B, Jarvis J, Koehler U, Martin T, Oehl-Jaschkowitz B, Ortibus E, Pilz DT, Prabhakar P, Rappold G, Rau I, Rettenberger G, Schlüter G, Scott RH, Shoukier M, Wohlleber E, Zirn B, Dobyns WB, Uyanik G. Moog U, et al. J Med Genet. 2011 Nov;48(11):741-51. doi: 10.1136/jmedgenet-2011-100218. Epub 2011 Sep 27. J Med Genet. 2011. PMID: 21954287
Phenotypic and molecular insights into CASK-related disorders in males.
Moog U, Bierhals T, Brand K, Bautsch J, Biskup S, Brune T, Denecke J, de Die-Smulders CE, Evers C, Hempel M, Henneke M, Yntema H, Menten B, Pietz J, Pfundt R, Schmidtke J, Steinemann D, Stumpel CT, Van Maldergem L, Kutsche K. Moog U, et al. Orphanet J Rare Dis. 2015 Apr 12;10:44. doi: 10.1186/s13023-015-0256-3. Orphanet J Rare Dis. 2015. PMID: 25886057 Free PMC article.
A de novo splice site mutation in CASK causes FG syndrome-4 and congenital nystagmus.
Dunn P, Prigatano GP, Szelinger S, Roth J, Siniard AL, Claasen AM, Richholt RF, De Both M, Corneveaux JJ, Moskowitz AM, Balak C, Piras IS, Russell M, Courtright AL, Belnap N, Rangasamy S, Ramsey K, Opitz JM, Craig DW, Narayanan V, Huentelman MJ, Schrauwen I. Dunn P, et al. Am J Med Genet A. 2017 Mar;173(3):611-617. doi: 10.1002/ajmg.a.38069. Epub 2017 Jan 31. Am J Med Genet A. 2017. PMID: 28139025
120 results