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Genes|April 3, 2021
De Novo 1q21.3q22 Duplication Revaluation in a "Cold" Complex Neuropsychiatric Case with Syndromic Intellectual DisabilityRoberta Milone, Roberta Scalise, Rosa Pasquariello, et al.
Italian Journal of Pediatrics|January 22, 2021
Aromatic L-amino Acid Decarboxylase (AADC) deficiency: results from an Italian modified Delphi consensusCarlo Fusco, Vincenzo Leuzzi, Pasquale Striano, et al.
Epilepsia Open|June 21, 2025
Dynamic electro-clinical features in Guanidinoacetate N-methyltransferase deficiency: A familial case seriesMariapaola Schifino, Emanuele Bartolini, Stefano Pagano, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|April 13, 2007
Does the assessment of general movements without video observation reliably predict neurological outcome?Andrea Guzzetta, Vittorio Belmonti, Roberta Battini, et al.
Brain & Development|April 15, 2018
Four years follow up of ACY1 deficient patient and pedigree studyMaria Grazia Alessandrì, Roberta Milone, Claudia Casalini, et al.
Orphanet Journal of Rare Diseases|February 3, 2017
Fifteen-year follow-up of Italian families affected by arginine glycine amidinotransferase deficiencyRoberta Battini, M Grazia Alessandrì, Claudia Casalini, et al.
Frontiers in Genetics|May 17, 2017
Deletion Extents Are Not the Cause of Clinical Variability in 22q11.2 Deletion Syndrome: Does the Interaction between DGCR8 and miRNA-CNVs Play a Major Role?Veronica Bertini, Alessia Azzarà, Annalisa Legitimo, et al.
International Journal of Molecular Sciences|June 10, 2023
DNA Methylation Biomarkers for Young Children with Idiopathic Autism Spectrum Disorder: A Systematic ReviewAndrea Stoccoro, Eugenia Conti, Elena Scaffei, et al.
Children (Basel, Switzerland)|March 28, 2026
Muscle Imaging Approaches in Marinesco-Sjögren Syndrome: A Systematic Review and Two New Clinical ReportsBianca Buchignani, Giada Vega, Rosa Pasquariello, et al.
European Journal of Medical Genetics|March 16, 2016
Focal cortical dysplasia, microcephaly and epilepsy in a boy with 1q21.1-q21.3 duplicationRoberta Milone, Angelo Valetto, Roberta Battini, et al.
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