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A compound heterozygous mutation in GPD1 causes hepatomegaly, steatohepatitis, and hypertriglyceridemia.
Eur J Hum Genet. 2014 Oct;22(10):1229-32. doi: 10.1038/ejhg.2014.8. Epub 2014 Feb 19.
Eur J Hum Genet. 2014.
PMID: 24549054
Free PMC article.
Mutation of KCNJ8 in a patient with Cantú syndrome with unique vascular abnormalities - support for the role of K(ATP) channels in this condition.
Brownstein CA, Towne MC, Luquette LJ, Harris DJ, Marinakis NS, Meinecke P, Kutsche K, Campeau PM, Yu TW, Margulies DM, Agrawal PB, Beggs AH.
Brownstein CA, et al. Among authors: marinakis ns.
Eur J Med Genet. 2013 Dec;56(12):678-82. doi: 10.1016/j.ejmg.2013.09.009. Epub 2013 Oct 28.
Eur J Med Genet. 2013.
PMID: 24176758
Free PMC article.
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Expanding the phenotype associated with the NEFL mutation: neuromuscular disease in a family with overlapping myopathic and neurogenic findings.
Agrawal PB, Joshi M, Marinakis NS, Schmitz-Abe K, Ciarlini PD, Sargent JC, Markianos K, De Girolami U, Chad DA, Beggs AH.
Agrawal PB, et al. Among authors: marinakis ns.
JAMA Neurol. 2014 Nov;71(11):1413-20. doi: 10.1001/jamaneurol.2014.1432.
JAMA Neurol. 2014.
PMID: 25264603
Free PMC article.
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Rare complete loss of function provides insight into a pleiotropic genome-wide association study locus.
Sankaran VG, Joshi M, Agrawal A, Schmitz-Abe K, Towne MC, Marinakis N, Markianos K, Berry GT, Agrawal PB.
Sankaran VG, et al.
Blood. 2013 Nov 28;122(23):3845-7. doi: 10.1182/blood-2013-09-528315.
Blood. 2013.
PMID: 24288412
Free article.
No abstract available.
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