Sfoglia per Autore  

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Mostrati risultati da 1 a 20 di 153
Titolo Data di pubblicazione Autori Rivista Serie Titolo libro
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 PolliIrene ToldoEmanuela LeonardiAlessandra MurgiaRui ChenGiovanni Minervini + GENOME BIOLOGY - -
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
CERT1 mutations perturb human development by disrupting sphingolipid homeostasis 2023 Leonardi, EmanuelaMurgia, Alessandra + THE JOURNAL OF CLINICAL INVESTIGATION - -
DNA methylation episignatures are sensitive and specific biomarkers for detection of patients with KAT6A/KAT6B variants 2023 Murgia, AlessandraLeonardi, Emanuela + EPIGENOMICS - -
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 - -
Activation Ratio Correlates with IQ in Female Carriers of the FMR1 Premutation 2023 Polli, RobertaMurgia, Alessandra + CELLS - -
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 - -
Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome 2022 Leonardi, EmanuelaMurgia, AlessandraOgnibene, Davide + GENOME MEDICINE - -
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 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 - -
A supervised classification of children with fragile X syndrome and controls driven by gait analysis data 2021 M. RomanatoF. SpolaorA. MurgiaZ. Sawacha + GAIT & POSTURE - -
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 - -
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 - -
Von Hippel-Lindau disease and multispecialist team 2021 Pavesi G.Scarpa B.Zanoletti E.Murgia A. + JOURNAL OF NEUROSURGICAL SCIENCES - -
A Novel WAC Loss of Function Mutation in an Individual Presenting with Encephalopathy Related to Status Epilepticus during Sleep (ESES) 2020 Leonardi E.Bellini M.Aspromonte M. C.Polli R.Bettella E.Cainelli E.Sartori S.Boniver C.Murgia A. + GENES - -
PPP2R5D variants in patients with variable neurodevelopmental phenotype 2020 Maria Cristina AspromonteEmanuela LeonardiRoberta PolliElisa BettellaMarilena CameranAlessandra Murgia + - - PPP2R5D variants in patients with variable neurodevelopmental phenotype
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 - -
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 - -
Expanding the genetic landscape of Rett syndrome to include lysine acetyltransferase 6A (KAT6A) 2020 Leonardi E.Murgia A. + JOURNAL OF GENETICS AND GENOMICS - -
Mostrati risultati da 1 a 20 di 153
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