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Notch signaling in human development and disease.
Penton AL, Leonard LD, Spinner NB. Penton AL, et al. Semin Cell Dev Biol. 2012 Jun;23(4):450-7. doi: 10.1016/j.semcdb.2012.01.010. Epub 2012 Jan 28. Semin Cell Dev Biol. 2012. PMID: 22306179 Free PMC article. Review.
Comparative PRKAR1A genotype-phenotype analyses in humans with Carney complex and prkar1a haploinsufficient mice.
Veugelers M, Wilkes D, Burton K, McDermott DA, Song Y, Goldstein MM, La Perle K, Vaughan CJ, O'Hagan A, Bennett KR, Meyer BJ, Legius E, Karttunen M, Norio R, Kaariainen H, Lavyne M, Neau JP, Richter G, Kirali K, Farnsworth A, Stapleton K, Morelli P, Takanashi Y, Bamforth JS, Eitelberger F, Noszian I, Manfroi W, Powers J, Mochizuki Y, Imai T, Ko GT, Driscoll DA, Goldmuntz E, Edelberg JM, Collins A, Eccles D, Irvine AD, McKnight GS, Basson CT. Veugelers M, et al. Proc Natl Acad Sci U S A. 2004 Sep 28;101(39):14222-7. doi: 10.1073/pnas.0405535101. Epub 2004 Sep 15. Proc Natl Acad Sci U S A. 2004. PMID: 15371594 Free PMC article.