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Left ventricular noncompaction in Sotos syndrome.
Martinez HR, Belmont JW, Craigen WJ, Taylor MD, Jefferies JL. Martinez HR, et al. Am J Med Genet A. 2011 May;155A(5):1115-8. doi: 10.1002/ajmg.a.33838. Epub 2011 Apr 11. Am J Med Genet A. 2011. PMID: 21484993
Cardiovascular findings in duplication 17p11.2 syndrome.
Jefferies JL, Pignatelli RH, Martinez HR, Robbins-Furman PJ, Liu P, Gu W, Lupski JR, Potocki L. Jefferies JL, et al. Among authors: martinez hr. Genet Med. 2012 Jan;14(1):90-4. doi: 10.1038/gim.0b013e3182329723. Epub 2011 Oct 17. Genet Med. 2012. PMID: 22237436 Free PMC article.
Loss of Function Mutations in NNT Are Associated With Left Ventricular Noncompaction.
Bainbridge MN, Davis EE, Choi WY, Dickson A, Martinez HR, Wang M, Dinh H, Muzny DM, Pignatelli R, Katsanis N, Boerwinkle E, Gibbs RA, Jefferies JL. Bainbridge MN, et al. Among authors: martinez hr. Circ Cardiovasc Genet. 2015 Aug;8(4):544-52. doi: 10.1161/CIRCGENETICS.115.001026. Epub 2015 May 29. Circ Cardiovasc Genet. 2015. PMID: 26025024 Free PMC article.
Clinical Insights Into Heritable Cardiomyopathies.
Martinez HR, Beasley GS, Miller N, Goldberg JF, Jefferies JL. Martinez HR, et al. Front Genet. 2021 Apr 28;12:663450. doi: 10.3389/fgene.2021.663450. eCollection 2021. Front Genet. 2021. PMID: 33995492 Free PMC article. Review.
792 results