Search Results - Maria Luce Genovesi

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  1. 1

    3′UTR Deletion of <i>NONO</i> Leads to Corpus Callosum Anomaly, Left Ventricular Non-Compaction and Ebstein’s Anomaly in a Male Fetus by Maria Grazia Giuffrida, Marina Goldoni, Maria Luce Genovesi, Giovanna Carpentieri, Barbara Torres, Anca Daniela Deac, Serena Cecchetti, Anna Martinelli, Alessandro Vaisfeld, Elisabetta Flex, Laura Bernardini

    Published in Diagnostics (2022-09-01)
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  2. 2

    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 in Molecular Genetics & Genomic Medicine (2020-01-01)
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  3. 3

    Cytogenomics and optical genome mapping approaches characterize a derivative interstitial monosomy 18p due to a maternal complex intrachromosomal rearrangement by Ludovico Graziani, Silvia Genovese, Maria Luce Genovesi, Cristiana Di Rosa, Rosalba Di Noi, Sara Loddo, Mario Bengala, Vito Luigi Colona, Antonio Novelli, Giuseppe Novelli, Viola Alesi, Anna Maria Nardone

    Published in Molecular Cytogenetics (2025-10-01)
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