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Quantitative Imaging in Medicine and Surgery|December 13, 2016
Mixed vascular nevus syndrome: a report of four new cases and a literature reviewMartino Ruggieri, Agata Polizzi, Serena Strano, et al.
Nutrients|September 13, 2025
Sapropterin Dihydrochloride Responsiveness in Phenylketonuria: A Case Series Exploring Gaps in Comprehensive Patient MonitoringManuela Lo Bianco, Roberta Leonardi, Alessia Migliore, et al.
Child'S Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery|October 8, 2010
A novel NF1 gene mutation in an Italian family with neurofibromatosis type 1Anna Lia Gabriele, Martino Ruggieri, Alessandra Patitucci, et al.
Genes|November 27, 2025
Chromothriptic Translocation t(1;18): A Paradigm of Genomic Complexity in a Child with Normal Intellectual Development and Pyridoxine-Dependent EpilepsyRaffaele Falsaperla, Eliana Salvo, Annamaria Sapuppo, et al.
Pathogens (Basel, Switzerland)|November 27, 2025
Clinical Presentation, Management and Outcome of Cerebral Echinococcosis in Children: A Systematic Review and Meta-AnalysisRoberta Leonardi, Alessandra Curatolo, Manuela Lo Bianco, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|January 26, 2016
Pontocerebellar hypoplasia type 2D and optic nerve atrophy further expand the spectrum associated with selenoprotein biosynthesis deficiencyEfterpi Pavlidou, Vincenzo Salpietro, Rahul Phadke, et al.
Epilepsia|February 23, 2012
Seizures and epilepsy in Sotos syndrome: analysis of 19 Caucasian patients with long-term follow-upFrancesco Nicita, Martino Ruggieri, Agata Polizzi, et al.
Infectious Disease Reports|January 22, 2024
Urea/Creatinine Ratio's Correlation with Creatine Kinase Normalization in Pediatric COVID-19 Patients with Myositis: Evaluating Prognostic and Predictive ValueFrancesco Pizzo, Andrea Marino, Alessandra Di Nora, et al.
Nutrients|February 13, 2025
Genotype-Phenotype Correlation in a Large Cohort of Eastern Sicilian Patients Affected by Phenylketonuria: Newborn Screening Program, Clinical Features, and Follow-UpMaria Chiara Consentino, Luisa La Spina, Concetta Meli, et al.
Scientific Reports|October 13, 2021
Observational study on the efficiency of Neonatal Emergency Transport in reducing mortality and morbidity indexes in SicilyRaffaele Falsaperla, Giovanna Vitaliti, Barbara Amato, et al.
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