POLLI, ROBERTA

POLLI, ROBERTA  

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Titolo Data di pubblicazione Autori Rivista Serie Titolo libro
Genetic variants and phenotypic data curated for the CAGI6 intellectual disability panel challenge 2025 Aspromonte, Maria CristinaDel Conte, AlessioPolli, RobertaBettella, ElisaNosadini, MargheritaPiovesan, DamianoTosatto, Silvio C EMurgia, AlessandraLeonardi, Emanuela + HUMAN GENETICS - -
Neurobehavioral Outcomes Relate to Activation Ratio in Female Carriers of Fragile X Syndrome Full Mutation: Two Pediatric Case Studies 2025 Di Giorgio E.Benavides Varela S.Porru A.Caviola S.Lunghi M.Rigo P.Mioni G.Calignano G.Valenza E.Beghetti F.Polli R.Sawacha Z.Murgia A. + INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES - -
Application of dynamic time warping to Fragile X syndrome’s gait patterns : a supervised approach 2024 F. BeghettiD. VaragnoloF. SpolaorA. GuiottoE. Di GiorgioR. PolliA. MurgiaZ. Sawacha + - - Poster Congresso SIAMOC 2024
CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods 2024 Piero FariselliManuel GiolloSilvio C E TosattoFederica LovisaElisa BettellaFederica CescaRoberta PolliStefano SartoriIrene ToldoMaria C AspromonteEmanuela LeonardiAlessandra MurgiaRui ChenGiovanni MinerviniAlexander M Monzon + GENOME BIOLOGY - -
CLASSIFICATION OF DIFFERENT FRAGILE X SYNDROME PHENOTYPES : A CLUSTER ANALYSIS APPROACH 2024 Fabiola SpolaorAnnamaria GuiottoGiulio RigoniWeronika PiatkowskaElisa Di GiorgioRoberta PolliAlessandra MurgiaZimi Sawacha + - - ESB proceedings
Unsupervised cluster approach to identify possible associations between phenotypes and gait motor control in children with Fragile X syndrome 2024 Fabiola SpolaorFederica BeghettiAnnamaria GuiottoElisa Di GiorgioRoberta PolliGiulio RigoniAlessandra MurgiaZimi Sawacha + GAIT & POSTURE - -
Activation Ratio Correlates with IQ in Female Carriers of the FMR1 Premutation 2023 Polli, RobertaMurgia, Alessandra + CELLS - -
Are gait kinematics and muscle activity influenced by mosaicism type in Fragile X Syndrome? 2023 Spolaor, FabiolaGuiotto, AnnamariaPiatkowska, WeronikaDi Giorgio, ElisaPolli, RobertaMurgia, AlessandraSawacha, Zimi + GAIT & POSTURE - Gait & Posture
ARE KINEMATICS AND MUSCULAR FUNCTION ASSOCIATED WITH MOSAICISM TYPE IN MALES WITH FRAGILE X SYNDROME? 2023 Fabiola SpolaorAnnamaria GuiottoW. PiatkowskaRoberta PolliAlessandra MurgiaZimi Sawacha + - - ESB 2023 Proceedings
Expanding the genetics and phenotypic spectrum of Lysine-specific demethylase 5C (KDM5C): a report of 13 novel mutations 2023 Emanuela LeonardiMaria Cristina AspromonteElisa BettellaRoberta PolliGiulia BonatoSerena PellegrinMiryam CarecchioAlessandra Murgia + EUROPEAN JOURNAL OF HUMAN GENETICS - -
A Supervised Classification of Children with Fragile X Syndrome and Controls Based on Kinematic and sEMG Parameters 2022 Fabiola SpolaorMarco RomanatoRoberta PolliAlessandra MurgiaZimi Sawacha + APPLIED SCIENCES - -
Feasibility of Screening for Chromosome 15 Imprinting Disorders in 16 579 Newborns by Using a Novel Genomic Workflow 2022 Murgia, AlessandraLeonardi, EmanuelaPolli, Roberta + JAMA NETWORK OPEN - -
A Missense de Novo Variant in the CASK -interactor KIRREL3 Gene Leading to Neurodevelopmental Disorder with Mild Cerebellar Hypoplasia 2021 Leonardi E.Polli R.Murgia A. + NEUROPEDIATRICS - -
Feasibility and reliability assessment of video-based motion analysis and surface electromyography in children with fragile x during gait 2021 Sawacha Z.Spolaor F.Piatkowska W. J.Cibin F.Guiotto A.Polli R.Murgia A. + SENSORS - -
Impact of the COVID-19 Italian Lockdown on the Physiological and Psychological Well-Being of Children with Fragile X Syndrome and Their Families 2021 Di Giorgio, ElisaPolli, RobertaLunghi, MarcoMurgia, Alessandra INTERNATIONAL JOURNAL OF ENVIRONMENTAL RESEARCH AND PUBLIC HEALTH - -
A Novel WAC Loss of Function Mutation in an Individual Presenting with Encephalopathy Related to Status Epilepticus during Sleep (ESES) 2020 Leonardi E.Aspromonte M. C.Polli R.Bettella E.Cainelli E.Sartori S.Boniver C.Murgia A. + GENES - -
Alterations in surface EMG during gait in children with Fragile X Syndrome 2020 Sawacha Z.Spolaor F.Piatkowska W.Cibin F.Pavan D.Guiotto A.Polli R.Murgia A. + GAIT & POSTURE - -
Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND) 2020 Emanuela LeonardiRoberta PolliAlessandra Murgia + EUROPEAN JOURNAL OF MEDICAL GENETICS - -
Cluster analysis of electromyographic data in children with Fragile X Syndrome and controls 2020 Piatkowska WSawacha ZSpolaor FRomanato MCibin FPavan DGuiotto APolli RMurgia A + GAIT & POSTURE - -
Frequency of Usher gene mutations in non-syndromic hearing loss: higher variability of the Usher phenotype 2020 Cesca F.Bettella E.Polli R.Leonardi E.Aspromonte M. C.Cama E.Scimemi P.Santarelli R.Murgia A. + JOURNAL OF HUMAN GENETICS - -