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689 results

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Page 1
Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.
Schrader A, Crispatzu G, Oberbeck S, Mayer P, Pützer S, von Jan J, Vasyutina E, Warner K, Weit N, Pflug N, Braun T, Andersson EI, Yadav B, Riabinska A, Maurer B, Ventura Ferreira MS, Beier F, Altmüller J, Lanasa M, Herling CD, Haferlach T, Stilgenbauer S, Hopfinger G, Peifer M, Brümmendorf TH, Nürnberg P, Elenitoba-Johnson KSJ, Zha S, Hallek M, Moriggl R, Reinhardt HC, Stern MH, Mustjoki S, Newrzela S, Frommolt P, Herling M. Schrader A, et al. Among authors: nurnberg p. Nat Commun. 2018 Feb 15;9(1):697. doi: 10.1038/s41467-017-02688-6. Nat Commun. 2018. PMID: 29449575 Free PMC article.
SOX9 duplication linked to intersex in deer.
Kropatsch R, Dekomien G, Akkad DA, Gerding WM, Petrasch-Parwez E, Young ND, Altmüller J, Nürnberg P, Gasser RB, Epplen JT. Kropatsch R, et al. Among authors: nurnberg p. PLoS One. 2013 Sep 6;8(9):e73734. doi: 10.1371/journal.pone.0073734. eCollection 2013. PLoS One. 2013. PMID: 24040047 Free PMC article.
Genome-wide protein QTL mapping identifies human plasma kallikrein as a post-translational regulator of serum uPAR levels.
Portelli MA, Siedlinski M, Stewart CE, Postma DS, Nieuwenhuis MA, Vonk JM, Nurnberg P, Altmuller J, Moffatt MF, Wardlaw AJ, Parker SG, Connolly MJ, Koppelman GH, Sayers I. Portelli MA, et al. Among authors: nurnberg p. FASEB J. 2014 Feb;28(2):923-34. doi: 10.1096/fj.13-240879. Epub 2013 Nov 18. FASEB J. 2014. PMID: 24249636 Free PMC article.
Gene locus ambiguity in posterior urethral valves/prune-belly syndrome.
Weber S, Mir S, Schlingmann KP, Nürnberg G, Becker C, Kara PE, Ozkayin N, Konrad M, Nürnberg P, Schaefer F. Weber S, et al. Among authors: nurnberg p, nurnberg g. Pediatr Nephrol. 2005 Aug;20(8):1036-42. doi: 10.1007/s00467-005-1977-7. Epub 2005 May 24. Pediatr Nephrol. 2005. PMID: 15912376
Haplotypes and SNPs in 13 lipid-relevant genes explain most of the genetic variance in high-density lipoprotein and low-density lipoprotein cholesterol.
Knoblauch H, Bauerfeind A, Toliat MR, Becker C, Luganskaja T, Günther UP, Rohde K, Schuster H, Junghans C, Luft FC, Nürnberg P, Reich JG. Knoblauch H, et al. Among authors: nurnberg p. Hum Mol Genet. 2004 May 15;13(10):993-1004. doi: 10.1093/hmg/ddh119. Epub 2004 Mar 25. Hum Mol Genet. 2004. PMID: 15044381
Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes.
Lal D, Reinthaler EM, Dejanovic B, May P, Thiele H, Lehesjoki AE, Schwarz G, Riesch E, Ikram MA, van Duijn CM, Uitterlinden AG, Hofman A, Steinböck H, Gruber-Sedlmayr U, Neophytou B, Zara F, Hahn A; Genetic Commission of the Italian League against Epilepsy; EuroEPINOMICS CoGIE Consortium; Gormley P, Becker F, Weber YG, Cilio MR, Kunz WS, Krause R, Zimprich F, Lemke JR, Nürnberg P, Sander T, Lerche H, Neubauer BA. Lal D, et al. Among authors: nurnberg p. PLoS One. 2016 Mar 18;11(3):e0150426. doi: 10.1371/journal.pone.0150426. eCollection 2016. PLoS One. 2016. PMID: 26990884 Free PMC article. Clinical Trial.
689 results