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De novo mutations in HCN1 cause early infantile epileptic encephalopathy.
Nava C, Dalle C, Rastetter A, Striano P, de Kovel CG, Nabbout R, Cancès C, Ville D, Brilstra EH, Gobbi G, Raffo E, Bouteiller D, Marie Y, Trouillard O, Robbiano A, Keren B, Agher D, Roze E, Lesage S, Nicolas A, Brice A, Baulac M, Vogt C, El Hajj N, Schneider E, Suls A, Weckhuysen S, Gormley P, Lehesjoki AE, De Jonghe P, Helbig I, Baulac S, Zara F, Koeleman BP; EuroEPINOMICS RES Consortium; Haaf T, LeGuern E, Depienne C. Nava C, et al. Among authors: schneider e. Nat Genet. 2014 Jun;46(6):640-5. doi: 10.1038/ng.2952. Epub 2014 Apr 20. Nat Genet. 2014. PMID: 24747641
Extreme methylation values of imprinted genes in human abortions and stillbirths.
Pliushch G, Schneider E, Weise D, El Hajj N, Tresch A, Seidmann L, Coerdt W, Müller AM, Zechner U, Haaf T. Pliushch G, et al. Among authors: schneider e. Am J Pathol. 2010 Mar;176(3):1084-90. doi: 10.2353/ajpath.2010.090764. Epub 2010 Jan 21. Am J Pathol. 2010. PMID: 20093482 Free PMC article.
2,619 results