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Genes|March 28, 2026
SINEUP-Mediated Overexpression of Endogenous α-Amylase as a Therapeutic Approach in Lafora DiseaseLorenzo Allegri, Federica Baldan, Catia Mio, et al.American Journal of Medical Genetics. Part A|September 13, 2011
Deletion 2p15-16.1 syndrome: case report and reviewPaolo Prontera, Laura Bernardini, Gabriela Stangoni, et al.Journal of Cardiac Surgery|October 1, 2010
Obstruction of the tricuspid valve orifice by a huge right atrial myxoma associated with the Carney complex: a case reportAlessandro Affronti, Isidoro Di Bella, Paolo Prontera, et al.American Journal of Medical Genetics. Part A|February 28, 2009
2q31.2q32.3 deletion syndrome: report of an adult patientPaolo Prontera, Laura Bernardini, Gabriela Stangoni, et al.American Journal of Medical Genetics. Part A|September 27, 2014
Recurrent ∼100 Kb microdeletion in the chromosomal region 14q11.2, involving CHD8 gene, is associated with autism and macrocephalyPaolo Prontera, Valentina Ottaviani, Daniela Toccaceli, et al.International Journal of Molecular Sciences|January 30, 2019
Imerslund-Gräsbeck Syndrome in an Infant with a Novel Intronic Variant in the AMN Gene: A Case ReportAlessandra Pacitto, Paolo Prontera, Gabriela Stangoni, et al.Archivio Italiano Di Urologia, Andrologia : Organo Ufficiale [Di] Societa Italiana Di Ecografia Urologica E Nefrologica|May 27, 2025
Impact of laparoscopic experience on learning curves in robotic-assisted radical prostatectomy (RaRP): a comparative analysis of oncological and functional outcomesPier Paolo Prontera, Francesca Romana Prusciano, Lattarulo Marco, et al.Archivio Italiano Di Urologia, Andrologia : Organo Ufficiale [Di] Societa Italiana Di Ecografia Urologica E Nefrologica|February 16, 2024
Quality of bladder cancer treatment information on YouTube: May the user's profile affect the quality of results?Pier Paolo Prontera, Francesca Romana Prusciano, Marco Lattarulo, et al.Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|May 25, 2021
Small-expanded allele spinocerebellar ataxia 17: imaging and phenotypic variabilityFederico Paolini Paoletti, Paolo Prontera, Pasquale Nigro, et al.Frontiers in Pediatrics|November 2, 2023
NFIA haploinsufficiency: case series and literature reviewGianluca Dini, Alberto Verrotti, Paolo Gorello, et al.Pageof 12