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Material Type: Artigo
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Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndromeBend, Eric G ; Aref-Eshghi, Erfan ; Everman, David B ; Rogers, R Curtis ; Cathey, Sara S ; Prijoles, Eloise J ; Lyons, Michael J ; Davis, Heather ; Clarkson, Katie ; Gripp, Karen W ; Li, Dong ; Bhoj, Elizabeth ; Zackai, Elaine ; Mark, Paul ; Hakonarson, Hakon ; Demmer, Laurie A ; Levy, Michael A ; Kerkhof, Jennifer ; Stuart, Alan ; Rodenhiser, David ; Friez, Michael J ; Stevenson, Roger E ; Schwartz, Charles E ; Sadikovic, BekimClinical epigenetics, 2019-04, Vol.11 (1), p.64-64, Article 64 [Periódico revisado por pares]Germany: BioMed Central LtdTexto completo disponível |
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Material Type: Artigo
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Normalized Clinical Severity Scores Reveal a Correlation between X Chromosome Inactivation and Disease Severity in Rett SyndromeMerritt, Jonathan K ; Fang, Xiaolan ; Caylor, Raymond C ; Skinner, Steven A ; Friez, Michael J ; Percy, Alan K ; Neul, Jeffrey LGenes, 2024-05, Vol.15 (5), p.594 [Periódico revisado por pares]Switzerland: MDPI AGTexto completo disponível |