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Journal of Human Genetics|March 21, 2018
Clinical and molecular consequences of exon 78 deletion in DMD geneMonica Traverso, Stefania Assereto, Serena Baratto, et al.Frontiers in Pediatrics|January 31, 2022
Diagnostic Approach to Macrocephaly in ChildrenAndrea Accogli, Ana Filipa Geraldo, Gianluca Piccolo, et al.Frontiers in Pediatrics|January 5, 2024
Case Report: Novel biallelic moderately damaging variants in RTTN in a patient with cerebellar dysplasiaFerruccio Romano, Elisabetta Amadori, Francesca Madia, et al.American Journal of Human Genetics|August 24, 2010
TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsyAntonio Falace, Fabia Filipello, Veronica La Padula, et al.Journal of Personalized Medicine|February 10, 2021
Potential Role of miRNAs in the Acquisition of Chemoresistance in NeuroblastomaBarbara Marengo, Alessandra Pulliero, Maria Valeria Corrias, et al.Birth Defects Research|November 8, 2022
Clinical and genetic analysis of patients with segmental overgrowth features and somatic mammalian target of rapamycin (mTOR) pathway disruption: Possible novel clinical issuesFerruccio Romano, Francesca Madia, Patrizia De Marco, et al.Neurology. Genetics|February 3, 2026
Functional Characterization of a De Novo SCN2A Mixed Variant Linked to Early Infantile Developmental and Epileptic EncephalopathyAnna Corradi, Antonella Riva, Bruno Sterlini, et al.Seizure|July 29, 2026
Epilepsy with fever-sensitivity in patients with ATP6V0C pathogenic variantsFederica Martina Abigail Tanganelli, Maria Francesca Di Feo, Francesca Madia, et al.European Journal of Medical Genetics|March 25, 2026
Horizontal gaze palsy with progressive scoliosis (HGPPS): expanding ROBO3 molecular spectrum and refining clinical-neuroimaging phenotypesMohammad Sadegh Shams Nosrati, Ferruccio Romano, Alireza Dostmohammadi, et al.Molecular Syndromology|December 7, 2016
Endocrinological Abnormalities Are a Main Feature of 17p13.1 Microduplication Syndrome: A New Case and Literature ReviewIlenia Maini, Ivan Ivanovski, Alessandro Iodice, et al.Pageof 8