LEONARDI, EMANUELA

LEONARDI, EMANUELA  

Dipartimento di Scienze Biomediche - DSB  

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Risultati 1 - 20 di 45 (tempo di esecuzione: 0.021 secondi).
Titolo Data di pubblicazione Autori Rivista Serie Titolo libro
A computational model of the LGI1 protein suggests a common binding site for ADAM proteins 2011 LEONARDI, EMANUELAVANIN, STEFANOBUSOLIN, GIORGIATOSATTO, SILVIO + PLOS ONE - -
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 - -
A novel deletion involving the Connexin-30 gene, del(GJB6-D13S1854) found in trans with mutations in the GJB2 gene (Connexin 26) in subjects with DFNB1 non syndromic hearing impairment 2005 LEONARDI EMURGIA, ALESSANDRA + JOURNAL OF MEDICAL GENETICS - -
A novel SACS mutation results in non-ataxic spastic paraplegia and peripheral neuropathy. 2013 GREGIANIN, ELISAVAZZA, GIOVANNIBOARETTO, FRANCESCAVETTORI, ANDREALEONARDI, EMANUELATOSATTO, SILVIOManara RPEGORARO, ELENAMOSTACCIUOLO, MARIA LUISA + EUROPEAN JOURNAL OF NEUROLOGY - -
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 - -
A Novel WT1 Gene Mutation in a Three-Generation Family with Progressive Isolated Focal Segmental Glomerulosclerosis 2010 BENETTI, ELISALEONARDI, EMANUELAARTIFONI, LINATOSATTO, SILVIO + CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY - -
Adding structural information to the von Hippel-Lindau (VHL) tumor suppressor interaction network 2009 LEONARDI, EMANUELAMURGIA, ALESSANDRATOSATTO, SILVIO FEBS LETTERS - -
Assessing computational predictions of the phenotypic effect of cystathionine-beta-synthase variants 2019 Casadio, RitaGiollo, ManuelLeonardi, EmanuelaRousseau, FredericTosatto, Silvio C E + HUMAN MUTATION - -
Assessment of patient clinical descriptions and pathogenic variants from gene panel sequences in the CAGI-5 intellectual disability challenge 2019 Carraro M.Monzon A. M.CHIRICOSTA, LUIGIREGGIANI, FRANCESCOAspromonte M. C.Bellini M.Ferrari C.Murgia A.Tosatto S. C. E.Leonardi E. + HUMAN MUTATION - -
BOOGIE: Predicting Blood Groups from High Throughput Sequencing Data 2015 GIOLLO, MANUELMINERVINI, GIOVANNISCALZOTTO, MARTALEONARDI, EMANUELAFERRARI, CARLOTOSATTO, SILVIO PLOS ONE - -
Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy. 2012 BELLO, LUCALeonardi ESORARU', GIANNIPALMIERI, ARIANNAVianello AAngelini CTOSATTO, SILVIOPEGORARO, ELENA + EUROPEAN JOURNAL OF HUMAN GENETICS - -
Characterization of intellectual disability and autism comorbidity through gene panel sequencing 2019 Aspromonte M. C.BELLINI, MARIAGRAZIAGasparini A.Carraro M.Bettella E.Polli R.Cesca F.MILANI, DUCCIOSartori S.Toldo I.MARINO BUSLJE, CRISTINA ESTERTosatto S. C. E.Murgia A.Leonardi E. + HUMAN MUTATION - -
Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND) 2020 Emanuela LeonardiRoberta PolliAlessandra Murgia + EUROPEAN JOURNAL OF MEDICAL GENETICS - -
CNTNAP2 mutations and autosomal dominant epilepsy with auditory features 2018 Leonardi, EmanuelaDazzo, EmanuelaASPROMONTE, MARIA CRISTINATabaro, FrancescoPASCARELLI, STEFANOTosatto, Silvio C. E.Murgia, Alessandra + EPILEPSY RESEARCH - -
Connexin 36 35delG does not represent a mutational hot spot. 2003 MURGIA, ALESSANDRALEONARDI E + HUMAN GENETICS - -
Critical assessment of protein intrinsic disorder prediction 2021 Necci M.Piovesan D.Walsh I.Vendruscolo M.Sormanni P.Wang C.Sharma R.Zhou Y.Vranken W.Dosztanyi Z.Erdos G.Meszaros B.Sharma A.Callebaut I.Tamana S.Chasapi A.Ouzounis C.Lambrughi M.Maiani E.Papaleo E.Chemes L. B.Alvarez L.Palopoli N.Benitez G. I.Bassot C.Elofsson A.Salvatore M.Hatos A.Monzon A. M.Bevilacqua M.Micetic I.Minervini G.Paladin L.Quaglia F.Leonardi E.Davey N.Tantos A.Davidovic R.Veljkovic N.Hajdu-Soltesz B.Pajkos M.Szaniszlo T.Tosatto S. C. E. + NATURE METHODS - -
Crohn disease risk prediction-Best practices and pitfalls with exome data 2017 GIOLLO, MANUELCARRARO, MARCOLEONARDI, EMANUELAFERRARI, CARLOTOSATTO, SILVIO + HUMAN MUTATION - -
Cx26 deafness: mutation analysis and clinical variability 1999 MURGIA, ALESSANDRAPOLLI R.LEONARDI E.ARSLAN, EDOARDOZACCHELLO, FRANCO + JOURNAL OF MEDICAL GENETICS - -
Deletions and Mutations in the Acidic Lipid-binding Region of the Plasma Membrane Ca2+ Pump A STUDY ON DIFFERENT SPLICING VARIANTS OF ISOFORM 2 2010 BRINI, MARISAOTTOLINI, DENISLEONARDI, EMANUELATOSATTO, SILVIO + THE JOURNAL OF BIOLOGICAL CHEMISTRY - -
DisProt 7.0: A major update of the database of disordered proteins 2017 PIOVESAN, DAMIANOMICETIC, IVANNECCI, MARCOQUAGLIA, FEDERICAAspromonte, Maria CristinaGASPARINI, ALESSANDRAHATOS, ANDRÁSLEONARDI, EMANUELAMINERVINI, GIOVANNITONELLO, FIORELLATOSATTO, SILVIO + NUCLEIC ACIDS RESEARCH - -