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Cytogenetic and Genome Research|October 30, 2018
First Report of Low-Rate Mosaicism for 20q11.21q12 Deletion and Delineation of the Associated DisorderSara Loddo, Viola Alesi, Silvia Genovese, et al.Neurogenetics|June 19, 2019
9q34.3 microduplications lead to neurodevelopmental disorders through EHMT1 overexpressionMaria Teresa Bonati, Chiara Castronovo, Alessandra Sironi, et al.American Journal of Medical Genetics. Part A|May 31, 2019
A heterozygous, intragenic deletion of CNOT2 recapitulates the phenotype of 12q15 deletion syndromeViola Alesi, Sara Loddo, Federica Calì, et al.American Journal of Medical Genetics. Part A|March 21, 2024
Clinical and molecular cytogenetic studies of five new patients with 20q11q12 deletion and review of the literature: Proposition of two critical regionsSouad Bensaid, Malika Bendahmane, Sara Loddo, et al.Orphanet Journal of Rare Diseases|June 10, 2011
Pontine Tegmental Cap Dysplasia: developmental and cognitive outcome in three adolescent patientsMarilena Briguglio, Lorenzo Pinelli, Lucio Giordano, et al.Molecular Cytogenetics|October 15, 2025
Cytogenomics and optical genome mapping approaches characterize a derivative interstitial monosomy 18p due to a maternal complex intrachromosomal rearrangementLudovico Graziani, Silvia Genovese, Maria Luce Genovesi, et al.Clinical Genetics|March 15, 2020
A new 1p36.13-1p36.12 microdeletion syndrome characterized by learning disability, behavioral abnormalities, and ptosisLine Aagaard Nolting, Charlotte Brasch-Andersen, Helen Cox, et al.Journal of Cardiovascular Development and Disease|October 26, 2022
Cardiovascular Involvement in Pediatric <i>FLNC</i> Variants: A Case Series of Fourteen PatientsAnwar Baban, Viola Alesi, Monia Magliozzi, et al.Heliyon|October 7, 2020
Expression profiles of the SARS-CoV-2 host invasion genes in nasopharyngeal and oropharyngeal swabs of COVID-19 patientsFrancesca Amati, Chiara Vancheri, Andrea Latini, et al.International Journal of Molecular Sciences|November 11, 2022
A Complex Genomic Rearrangement Resulting in Loss of Function of <i>SCN1A</i> and <i>SCN2A</i> in a Patient with Severe Developmental and Epileptic EncephalopathyValeria Orlando, Silvia Di Tommaso, Viola Alesi, et al.Pageof 5