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63 results

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Page 1
Congenital sideroblastic anemia due to mutations in the mitochondrial HSP70 homologue HSPA9.
Schmitz-Abe K, Ciesielski SJ, Schmidt PJ, Campagna DR, Rahimov F, Schilke BA, Cuijpers M, Rieneck K, Lausen B, Linenberger ML, Sendamarai AK, Guo C, Hofmann I, Newburger PE, Matthews D, Shimamura A, Snijders PJ, Towne MC, Niemeyer CM, Watson HG, Dziegiel MH, Heeney MM, May A, Bottomley SS, Swinkels DW, Markianos K, Craig EA, Fleming MD. Schmitz-Abe K, et al. Among authors: rahimov f. Blood. 2015 Dec 17;126(25):2734-8. doi: 10.1182/blood-2015-09-659854. Epub 2015 Oct 21. Blood. 2015. PMID: 26491070 Free PMC article.
Normalizing hepcidin predicts TMPRSS6 mutation status in patients with chronic iron deficiency.
Heeney MM, Guo D, De Falco L, Campagna DR, Olbina G, Kao PP, Schmitz-Abe K, Rahimov F, Gutschow P, Westerman K, Ostland V, Jackson T, Klaassen RJ, Markianos K, Finberg KE, Iolascon A, Westerman M, London WB, Fleming MD. Heeney MM, et al. Among authors: rahimov f. Blood. 2018 Jul 26;132(4):448-452. doi: 10.1182/blood-2017-03-773028. Epub 2018 Jun 12. Blood. 2018. PMID: 29895660 Free PMC article. No abstract available.
Comparative RNA editing in autistic and neurotypical cerebella.
Eran A, Li JB, Vatalaro K, McCarthy J, Rahimov F, Collins C, Markianos K, Margulies DM, Brown EN, Calvo SE, Kohane IS, Kunkel LM. Eran A, et al. Among authors: rahimov f. Mol Psychiatry. 2013 Sep;18(9):1041-8. doi: 10.1038/mp.2012.118. Epub 2012 Aug 7. Mol Psychiatry. 2013. PMID: 22869036 Free PMC article.
A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency.
Jabara HH, Boyden SE, Chou J, Ramesh N, Massaad MJ, Benson H, Bainter W, Fraulino D, Rahimov F, Sieff C, Liu ZJ, Alshemmari SH, Al-Ramadi BK, Al-Dhekri H, Arnaout R, Abu-Shukair M, Vatsayan A, Silver E, Ahuja S, Davies EG, Sola-Visner M, Ohsumi TK, Andrews NC, Notarangelo LD, Fleming MD, Al-Herz W, Kunkel LM, Geha RS. Jabara HH, et al. Among authors: rahimov f. Nat Genet. 2016 Jan;48(1):74-8. doi: 10.1038/ng.3465. Epub 2015 Dec 7. Nat Genet. 2016. PMID: 26642240 Free PMC article.
Medical sequencing of candidate genes for nonsyndromic cleft lip and palate.
Vieira AR, Avila JR, Daack-Hirsch S, Dragan E, Félix TM, Rahimov F, Harrington J, Schultz RR, Watanabe Y, Johnson M, Fang J, O'Brien SE, Orioli IM, Castilla EE, Fitzpatrick DR, Jiang R, Marazita ML, Murray JC. Vieira AR, et al. Among authors: rahimov f. PLoS Genet. 2005 Dec;1(6):e64. doi: 10.1371/journal.pgen.0010064. Epub 2005 Dec 2. PLoS Genet. 2005. PMID: 16327884 Free PMC article.
Facioscapulohumeral muscular dystrophy family studies of DUX4 expression: evidence for disease modifiers and a quantitative model of pathogenesis.
Jones TI, Chen JC, Rahimov F, Homma S, Arashiro P, Beermann ML, King OD, Miller JB, Kunkel LM, Emerson CP Jr, Wagner KR, Jones PL. Jones TI, et al. Among authors: rahimov f. Hum Mol Genet. 2012 Oct 15;21(20):4419-30. doi: 10.1093/hmg/dds284. Epub 2012 Jul 13. Hum Mol Genet. 2012. PMID: 22798623 Free PMC article.
63 results