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Year | Number of Results |
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2014 | 2 |
2015 | 1 |
2024 | 0 |
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RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome.
J Clin Invest. 2015 Sep;125(9):3585-99. doi: 10.1172/JCI80102. Epub 2015 Aug 17.
J Clin Invest. 2015.
PMID: 26280580
Free PMC article.
Ciliopathy proteins regulate paracrine signaling by modulating proteasomal degradation of mediators.
Liu YP, Tsai IC, Morleo M, Oh EC, Leitch CC, Massa F, Lee BH, Parker DS, Finley D, Zaghloul NA, Franco B, Katsanis N.
Liu YP, et al.
J Clin Invest. 2014 May;124(5):2059-70. doi: 10.1172/JCI71898. Epub 2014 Apr 1.
J Clin Invest. 2014.
PMID: 24691443
Free PMC article.
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Recurrent CNVs and SNVs at the NPHP1 locus contribute pathogenic alleles to Bardet-Biedl syndrome.
Lindstrand A, Davis EE, Carvalho CM, Pehlivan D, Willer JR, Tsai IC, Ramanathan S, Zuppan C, Sabo A, Muzny D, Gibbs R, Liu P, Lewis RA, Banin E, Lupski JR, Clark R, Katsanis N.
Lindstrand A, et al.
Am J Hum Genet. 2014 May 1;94(5):745-54. doi: 10.1016/j.ajhg.2014.03.017. Epub 2014 Apr 17.
Am J Hum Genet. 2014.
PMID: 24746959
Free PMC article.
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