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Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations.
Hochberg I, Demain LAM, Richer J, Thompson K, Urquhart JE, Rea A, Pagarkar W, Rodríguez-Palmero A, Schlüter A, Verdura E, Pujol A, Quijada-Fraile P, Amberger A, Deutschmann AJ, Demetz S, Gillespie M, Belyantseva IA, McMillan HJ, Barzik M, Beaman GM, Motha R, Ng KY, O'Sullivan J, Williams SG, Bhaskar SS, Lawrence IR, Jenkinson EM, Zambonin JL, Blumenfeld Z, Yalonetsky S, Oerum S, Rossmanith W; Genomics England Research Consortium; Yue WW, Zschocke J, Munro KJ, Battersby BJ, Friedman TB, Taylor RW, O'Keefe RT, Newman WG. Hochberg I, et al. Am J Hum Genet. 2021 Nov 4;108(11):2195-2204. doi: 10.1016/j.ajhg.2021.10.002. Epub 2021 Oct 28. Am J Hum Genet. 2021. PMID: 34715011 Free PMC article.
Haptoglobin genotype as a risk factor for diabetic retinopathy.
Nakhoul FM, Marsh S, Hochberg I, Leibu R, Miller BP, Levy AP. Nakhoul FM, et al. Among authors: hochberg i. JAMA. 2000 Sep 13;284(10):1244-5. doi: 10.1001/jama.284.10.1244-a. JAMA. 2000. PMID: 10979109 No abstract available.
Haptoglobin phenotype and diabetic nephropathy.
Nakhoul FM, Zoabi R, Kanter Y, Zoabi M, Skorecki K, Hochberg I, Leibu R, Miller B, Levy AP. Nakhoul FM, et al. Among authors: hochberg i. Diabetologia. 2001 May;44(5):602-4. doi: 10.1007/s001250051666. Diabetologia. 2001. PMID: 11380078
71 results