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Thrombocytopenia is associated with a dysregulated host response in critically ill sepsis patients.
Claushuis TA, van Vught LA, Scicluna BP, Wiewel MA, Klein Klouwenberg PM, Hoogendijk AJ, Ong DS, Cremer OL, Horn J, Franitza M, Toliat MR, Nürnberg P, Zwinderman AH, Bonten MJ, Schultz MJ, van der Poll T; Molecular Diagnosis and Risk Stratification of Sepsis Consortium. Claushuis TA, et al. Among authors: nurnberg p. Blood. 2016 Jun 16;127(24):3062-72. doi: 10.1182/blood-2015-11-680744. Epub 2016 Mar 8. Blood. 2016. PMID: 26956172 Free article.
New universal primers facilitate Pyrosequencing.
Aydin A, Toliat MR, Bähring S, Becker C, Nürnberg P. Aydin A, et al. Among authors: nurnberg p. Electrophoresis. 2006 Feb;27(2):394-7. doi: 10.1002/elps.200500467. Electrophoresis. 2006. PMID: 16331584
RBFOX1 and RBFOX3 mutations in rolandic epilepsy.
Lal D, Reinthaler EM, Altmüller J, Toliat MR, Thiele H, Nürnberg P, Lerche H, Hahn A, Møller RS, Muhle H, Sander T, Zimprich F, Neubauer BA. Lal D, et al. Among authors: nurnberg p. PLoS One. 2013 Sep 6;8(9):e73323. doi: 10.1371/journal.pone.0073323. eCollection 2013. PLoS One. 2013. PMID: 24039908 Free PMC article.
Mutation of POC1B in a severe syndromic retinal ciliopathy.
Beck BB, Phillips JB, Bartram MP, Wegner J, Thoenes M, Pannes A, Sampson J, Heller R, Göbel H, Koerber F, Neugebauer A, Hedergott A, Nürnberg G, Nürnberg P, Thiele H, Altmüller J, Toliat MR, Staubach S, Boycott KM, Valente EM, Janecke AR, Eisenberger T, Bergmann C, Tebbe L, Wang Y, Wu Y, Fry AM, Westerfield M, Wolfrum U, Bolz HJ. Beck BB, et al. Among authors: nurnberg p, nurnberg g. Hum Mutat. 2014 Oct;35(10):1153-62. doi: 10.1002/humu.22618. Epub 2014 Aug 11. Hum Mutat. 2014. PMID: 25044745 Free PMC article.
Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes.
Schubert J, Siekierska A, Langlois M, May P, Huneau C, Becker F, Muhle H, Suls A, Lemke JR, de Kovel CG, Thiele H, Konrad K, Kawalia A, Toliat MR, Sander T, Rüschendorf F, Caliebe A, Nagel I, Kohl B, Kecskés A, Jacmin M, Hardies K, Weckhuysen S, Riesch E, Dorn T, Brilstra EH, Baulac S, Møller RS, Hjalgrim H, Koeleman BP; EuroEPINOMICS RES Consortium; Jurkat-Rott K, Lehman-Horn F, Roach JC, Glusman G, Hood L, Galas DJ, Martin B, de Witte PA, Biskup S, De Jonghe P, Helbig I, Balling R, Nürnberg P, Crawford AD, Esguerra CV, Weber YG, Lerche H. Schubert J, et al. Among authors: nurnberg p. Nat Genet. 2014 Dec;46(12):1327-32. doi: 10.1038/ng.3130. Epub 2014 Nov 2. Nat Genet. 2014. PMID: 25362483
689 results