Losing DNA methylation at repetitive elements and breaking bad

by Xena Giada Pappalardo, Viviana Barra
Published 2021-06-01

Intronic Variant in CNTNAP2 Gene in a Boy With Remarkable Conduct Disorder, Minor Facial Features, Mild Intellectual Disability, and Seizures

by Raffaele Falsaperla, Xena Giada Pappalardo, Xena Giada Pappalardo, Catia Romano, Simona Domenica Marino, Giovanni Corsello, Martino Ruggieri, Enrico Parano, Piero Pavone
Published 2020-09-01

Is the secret of VDAC Isoforms in their gene regulation? Characterization of human <i>VDAC</i> genes expression profile, promoter activity, and transcriptional regulators

by Federica Zinghirino, Xena Giada Pappalardo, Angela Messina, Francesca Guarino, Vito De Pinto
Published 2020-10-01

A novel GABRB3 variant in Dravet syndrome: Case report and literature review

by Piero Pavone, Xena Giada Pappalardo, Simona D. Marino, Laura Sciuto, Giovanni Corsello, Martino Ruggieri, Enrico Parano, Maria Piccione, Raffaele Falsaperla
Published 2020-11-01

PRRT2 gene variant in a child with dysmorphic features, congenital microcephaly, and severe epileptic seizures: genotype-phenotype correlation?

by Piero Pavone, Giovanni. Corsello, Sung Yoon Cho, Xena Giada Pappalardo, Martino Ruggieri, Simona Domenica Marino, Dong Kyu Jin, Silvia Marino, Raffaele Falsaperla
Published 2019-12-01

VDAC Genes Expression and Regulation in Mammals

by Federica Zinghirino, Xena Giada Pappalardo, Angela Messina, Angela Messina, Giuseppe Nicosia, Vito De Pinto, Vito De Pinto, Vito De Pinto, Francesca Guarino, Francesca Guarino, Francesca Guarino
Published 2021-08-01