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Pathogenic SLIRP variants as a novel cause of autosomal recessive mitochondrial encephalomyopathy with complex I and IV deficiency.
Eur J Hum Genet. 2021 Dec;29(12):1789-1795. doi: 10.1038/s41431-021-00947-1. Epub 2021 Aug 23.
Eur J Hum Genet. 2021.
PMID: 34426662
Free PMC article.
Web-accessible application for identifying pathogenic transcripts with RNA-seq: Increased sensitivity in diagnosis of neurodevelopmental disorders.
Dekker J, Schot R, Bongaerts M, de Valk WG, van Veghel-Plandsoen MM, Monfils K, Douben H, Elfferich P, Kasteleijn E, van Unen LMA, Geeven G, Saris JJ, van Ierland Y, Verheijen FW, van der Sterre MLT, Sadeghi Niaraki F, Smits DJ, Huidekoper HH, Williams M, Wilke M, Verhoeven VJM, Joosten M, Kievit AJA, van de Laar IMBH, Hoefsloot LH, Hoogeveen-Westerveld M, Nellist M, Mancini GMS, van Ham TJ.
Dekker J, et al. Among authors: sadeghi niaraki f.
Am J Hum Genet. 2023 Feb 2;110(2):251-272. doi: 10.1016/j.ajhg.2022.12.015. Epub 2023 Jan 19.
Am J Hum Genet. 2023.
PMID: 36669495
Free PMC article.
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Elevation of plasma phospholipid transfer protein increases the risk of atherosclerosis despite lower apolipoprotein B-containing lipoproteins.
Lie J, de Crom R, van Gent T, van Haperen R, Scheek L, Sadeghi-Niaraki F, van Tol A.
Lie J, et al. Among authors: sadeghi niaraki f.
J Lipid Res. 2004 May;45(5):805-11. doi: 10.1194/jlr.M300487-JLR200. Epub 2004 Mar 1.
J Lipid Res. 2004.
PMID: 14993244
Free article.
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Sex differences in atherosclerosis in mice with elevated phospholipid transfer protein activity are related to decreased plasma high density lipoproteins and not to increased production of triglycerides.
Lie J, Moerland M, van Gent T, van Haperen R, Scheek L, Sadeghi-Niaraki F, de Crom R, van Tol A.
Lie J, et al. Among authors: sadeghi niaraki f.
Biochim Biophys Acta. 2006 Sep;1761(9):1070-7. doi: 10.1016/j.bbalip.2006.06.013. Epub 2006 Jul 20.
Biochim Biophys Acta. 2006.
PMID: 16935026
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