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European Journal of Neurology|August 4, 2026
Federating European REgistries for Stroke: Principles, Data Model and Future Perspectives for a Federated Analysis of Multiple Prospective Stroke RegistriesAlexander Salerno, Georges Melissargos, Mira Katan, et al.Clinical Dysmorphology|December 1, 2007
Expanding the phenotype of 22q11 deletion syndrome: the MURCS associationVera Uliana, Nicola Giordano, Rossella Caselli, et al.Cells|April 11, 2020
Toxic-Metal-Induced Alteration in miRNA Expression Profile as a Proposed Mechanism for Disease DevelopmentDavid R Wallace, Yasmeen M Taalab, Sarah Heinze, et al.Journal of Human Genetics|February 8, 2006
Mutational screening of the RB1 gene in Italian patients with retinoblastoma reveals 11 novel mutationsKatia Sampieri, Theodora Hadjistilianou, Francesca Mari, et al.Scientific Reports|July 13, 2025
Rare variants modulating phenotype in NF1 carriersElena Pasquinelli, Giulia Casamassima, Giulia Brunelli, et al.Brain : a Journal of Neurology|March 4, 2020
Gene replacement ameliorates deficits in mouse and human models of cyclin-dependent kinase-like 5 disorderYunan Gao, Elaine E Irvine, Ioanna Eleftheriadou, et al.Journal of Human Genetics|May 16, 2007
Retinoblastoma and mental retardation microdeletion syndrome: clinical characterization and molecular dissection using array CGHR Caselli, C Speciale, C Pescucci, et al.Acta Oncologica (Stockholm, Sweden)|September 12, 2008
Genomic differences between retinoma and retinoblastomaKatia Sampieri, Maria Antonietta Mencarelli, Maria Carmela Epistolato, et al.Genes|September 28, 2021
13q Deletion Syndrome Involving RB1: Characterization of a New Minimal Critical Region for Psychomotor DelayFlavia Privitera, Arianna Calonaci, Gabriella Doddato, et al.Cancer Causes & Control : CCC|July 30, 2026
A real-world workplace-based screening for Helicobacter pylori infection: the HPOS studyGiulia Collatuzzo, Giulia Fiorini, Matteo Pavoni, et al.Pageof 63