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Medical Dosimetry : Official Journal of the American Association of Medical Dosimetrists|January 18, 2014
Dosimetric effect of Elekta Beam modulator micromultileaf in three-dimensional conformal radiotherapy and intensity-modulated radiotherapy for prostate cancerAlessandra Carosi, Gianluca Ingrosso, Elisabetta Ponti, et al.
American Journal of Medical Genetics. Part A|January 24, 2009
A novel CDKL5 mutation in a 47,XXY boy with the early-onset seizure variant of Rett syndromeStefano Sartori, Gabriella Di Rosa, Roberta Polli, et al.
Journal of Human Genetics|September 29, 2006
Molecular analysis of two uncharacterized sequence variants of the VHL geneMaddalena Martella, Leonardo Salviati, Alberto Casarin, et al.
Haematologica|June 1, 2005
Low frequency of VHL gene mutations in young individuals with polycythemia and high serum erythropoietinMaria Luigia Randi, Alessandra Murgia, Maria Caterina Putti, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|July 15, 2018
Brain malformations associated to Aldh7a1 gene mutations: Report of a novel homozygous mutation and literature reviewIrene Toldo, Claudia Maria Bonardi, Elisa Bettella, et al.
Annals of Human Genetics|September 18, 2014
Identification of four novel PCDH19 Mutations and prediction of their functional impactEmanuela Leonardi, Stefano Sartori, Marilena Vecchi, et al.
Neuropediatrics|April 14, 2021
A Missense De Novo Variant in the CASK-interactor KIRREL3 Gene Leading to Neurodevelopmental Disorder with Mild Cerebellar HypoplasiaClaudia Ciaccio, Emanuela Leonardi, Roberta Polli, et al.
Neuropsychologia|November 6, 2012
Genetics and mathematics: FMR1 premutation female carriersCarlo Semenza, Sabrina Bonollo, Roberta Polli, et al.
Sensors (Basel, Switzerland)|July 24, 2021
Feasibility and Reliability Assessment of Video-Based Motion Analysis and Surface Electromyography in Children with Fragile X during GaitZimi Sawacha, Fabiola Spolaor, Weronika Joanna Piątkowska, et al.
Frontiers in Neurology|January 4, 2021
Identification of <i>SETBP1</i> Mutations by Gene Panel Sequencing in Individuals With Intellectual Disability or With "Developmental and Epileptic Encephalopathy"Emanuela Leonardi, Elisa Bettella, Maria Federica Pelizza, et al.
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