Gerarda Cappuccio to Epigenesis, Genetic
This is a "connection" page, showing publications Gerarda Cappuccio has written about Epigenesis, Genetic.
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Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature. Am J Hum Genet. 2021 06 03; 108(6):1053-1068.
Score: 0.122
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Variegated silencing through epigenetic modifications of a large Xq region in a case of balanced X;2 translocation with Incontinentia Pigmenti-like phenotype. Epigenetics. 2011 Oct 01; 6(10):1242-7.
Score: 0.063
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Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders. Hum Mutat. 2022 11; 43(11):1609-1628.
Score: 0.033
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Genotype-phenotype spectrum and correlations in Xia-Gibbs syndrome: Report of five novel cases and literature review. Birth Defects Res. 2022 08 01; 114(13):759-767.
Score: 0.033