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Journal of Neurology|June 14, 2024
CDKL5 deficiency-related neurodevelopmental disorders: a multi-center cohort study in ItalyGiovanni Battista Dell'Isola, Antonella Fattorusso, Francesco Pisani, et al.International Journal of Molecular Sciences|February 3, 2021
Genome-Wide DNA Methylation Analysis of a Cohort of 41 Patients Affected by Oculo-Auriculo-Vertebral Spectrum (OAVS)Valentina Guida, Luciano Calzari, Maria Teresa Fadda, et al.Journal of Robotic Surgery|July 5, 2025
Proctoring in robot-assisted urologic surgery: insights from a multicenter surveyGianluigi Califano, Francesco Di Bello, Claudia Collà Ruvolo, et al.Journal of Medical Genetics|March 15, 2020
Customised next-generation sequencing multigene panel to screen a large cohort of individuals with chromatin-related disorderGabriella Maria Squeo, Bartolomeo Augello, Valentina Massa, et al.Medrxiv : the Preprint Server for Health Sciences|January 23, 2024
De novo variants in PLCG1 are associated with hearing impairment, ocular pathology, and cardiac defectsMengqi Ma, Yiming Zheng, Shenzhao Lu, et al.Clinical Epigenetics|June 1, 2022
Novel genetic variants of KHDC3L and other members of the subcortical maternal complex associated with Beckwith-Wiedemann syndrome or Pseudohypoparathyroidism 1B and multi-locus imprinting disturbancesLaura Pignata, Francesco Cecere, Ankit Verma, et al.Cancers|October 16, 2025
Local Recurrence After Nephron Surgery: What to Do? An Italian Multicentric RegistryAngelo Porreca, Filippo Marino, Davide De Marchi, et al.Cerebrovascular Diseases (Basel, Switzerland)|January 13, 2016
Research Progresses in Understanding the Pathophysiology of Moyamoya DiseaseAnna Bersano, Stephanie Guey, Gloria Bedini, et al.Clinical Epigenetics|August 12, 2021
Childhood-onset dystonia-causing KMT2B variants result in a distinctive genomic hypermethylation profileAndrea Ciolfi, Aidin Foroutan, Alessandro Capuano, et al.The Journal of Clinical Investigation|August 18, 2015
RAP1-mediated MEK/ERK pathway defects in Kabuki syndromeNina Bögershausen, I-Chun Tsai, Esther Pohl, et al.Pageof 12