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Publisher Correction: Spermine synthase deficiency causes lysosomal dysfunction and oxidative stress in models of Snyder-Robinson syndrome.
Li C, Brazill JM, Liu S, Bello C, Zhu Y, Morimoto M, Cascio L, Pauly R, Diaz-Perez Z, Malicdan MCV, Wang H, Boccuto L, Schwartz CE, Gahl WA, Boerkoel CF, Zhai RG. Li C, et al. Among authors: pauly r. Nat Commun. 2018 Jan 18;9(1):337. doi: 10.1038/s41467-017-02462-8. Nat Commun. 2018. PMID: 29348635 Free PMC article.
DNA methylation epi-signature is associated with two molecularly and phenotypically distinct clinical subtypes of Phelan-McDermid syndrome.
Schenkel LC, Aref-Eshghi E, Rooney K, Kerkhof J, Levy MA, McConkey H, Rogers RC, Phelan K, Sarasua SM, Jain L, Pauly R, Boccuto L, DuPont B, Cappuccio G, Brunetti-Pierri N, Schwartz CE, Sadikovic B. Schenkel LC, et al. Among authors: pauly r. Clin Epigenetics. 2021 Jan 6;13(1):2. doi: 10.1186/s13148-020-00990-7. Clin Epigenetics. 2021. PMID: 33407854 Free PMC article.
A new test for autism spectrum disorder: Metabolic data from different cell types.
Srikanth S, Cascio L, Pauly R, Jones K, Sorrow S, Cubillan R, Chen CF, Skinner CD, Champaigne K, Stevenson RE, Schwartz CE, Boccuto L. Srikanth S, et al. Among authors: pauly r. Data Brief. 2021 Nov 23;39:107598. doi: 10.1016/j.dib.2021.107598. eCollection 2021 Dec. Data Brief. 2021. PMID: 34877376 Free PMC article.
164 results