<b>Prenatal Exome Sequencing: Background, Current Practice and Future Perspectives—A Systematic Review</b>

by Daniele Guadagnolo, Gioia Mastromoro, Francesca Di Palma, Antonio Pizzuti, Enrica Marchionni
Published 2021-02-01

Genotype-Phenotype Correlations in Monogenic Parkinson Disease: A Review on Clinical and Molecular Findings

by Daniele Guadagnolo, Maria Piane, Maria Piane, Maria Rosaria Torrisi, Maria Rosaria Torrisi, Antonio Pizzuti, Simona Petrucci, Simona Petrucci
Published 2021-09-01

Prenatal whole exome sequencing detects a new homozygous fukutin (FKTN) mutation in a fetus with an ultrasound suspicion of familial Dandy–Walker malformation

by Alice Traversa, Silvia Bernardo, Alessandro Paiardini, Agnese Giovannetti, Enrica Marchionni, Maria Luce Genovesi, Daniele Guadagnolo, Barbara Torres, Stefano Paolacci, Laura Bernardini, Tommaso Mazza, Massimo Carella, Viviana Caputo, Antonio Pizzuti
Published 2020-01-01