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Data di pubblicazione Titolo Autore(i) File
1-gen-2020 25 years of the SMN genes: the Copernican revolution of spinal muscular atrophy Tiziano, F. D.; Tizzano, E. F.
1-gen-2020 Adaptive introgression from indicine cattle into white cattle breeds from Central Italy Barbato, Mario; Hailer, Frank; Upadhyay, Maulik; Del Corvo, Marcello; Colli, Licia; Negrini, Riccardo; Kim, Eui-Soo; Crooijmans, Richard P. M. A.; Sonstegard, Tad; Ajmone Marsan, Paolo
1-gen-2019 Additional molecular and clinical evidence open the way to definitive IARC classification of the BRCA1 c.5332G > A (p.Asp1778Asn) variant Minucci, A; Lalle, M; De Leo, R; Mazzuccato, G; Scambia, G; Urbani, A; Fagotti, A; Concolino, P; Capoluongo, E
1-gen-2001 Advances in the genetics of progressive myoclonus epilepsy Torrisi, L.; Sangiorgi, E.; Russo, L.; Gurrieri, F.
1-gen-2016 Advances in understanding - genetic basis of intellectual disability Chiurazzi, Pietro; Pirozzi, Filomena
1-gen-2016 An Age-Standardized Prevalence Estimate and a Sex and Age Distribution of Myotonic Dystrophy Types 1 and 2 in the Rome Province, Italy. Vanacore, N; Rastelli, E; Antonini, G; Bianchi, Maria Laura Ester; Botta, A; Bucci, E; Casali, C; Costanzi Porrini, S; Giacanelli, M; Gibellini, M; Modoni, Anna; Novelli, Giuseppe; Pennisi, Em; Petrucci, A; Piantadosi, C; Silvestri, Gabriella; Terracciano, C; Massa, R.
1-gen-2020 Altered mitochondrial function in cells carrying a premutation or unmethylated full mutation of the FMR1 gene Nobile, V.; Palumbo, F.; Lanni, S.; Ghisio, V.; Vitali, A.; Castagnola, M.; Marzano, V.; Maulucci, G.; De Angelis, C.; De Spirito, M.; Pacini, L.; D'Andrea, L.; Ragno, R.; Stazi, G.; Valente, S.; Mai, A.; Chiurazzi, P.; Genuardi, M.; Neri, G.; Tabolacci, E.
1-gen-2021 Alternating Hemiplegia of Childhood: Genotype–Phenotype Correlations in a Cohort of 39 Italian Patients Cordani, R.; Stagnaro, M.; Pisciotta, L.; Tiziano, F. D.; Calevo, M. G.; Nobili, L.; De Grandis, E.
1-gen-2020 Application of an Integrated and Open Source Workflow for LC-HRMS Plant Metabolomics Studies. Case-Control Study: Metabolic Changes of Maize in Response to Fusarium verticillioides Infection Ciasca, B.; Lanubile, A.; Marocco, A.; Pascale, M.; Logrieco, A. F.; Lattanzio, V. M. T.
1-gen-2017 Assessment of the InSiGHT Interpretation Criteria for the Clinical Classification of 24 MLH1 and MSH2 Gene Variants Tricarico, Rossella; Kasela, Mariann; Mareni, Cristina; Thompson, Bryony A.; Drouet, Aurélie; Staderini, Lucia; Gorelli, Greta; Crucianelli, Francesca; Ingrosso, Valentina; Kantelinen, Jukka; Papi, Laura; De Angioletti, Maria; Berardi, Margherita; Gaildrat, Pascaline; Soukarieh, Omar; Turchetti, Daniela; Martins, Alexandra; Spurdle, Amanda B.; Nyström, Minna; Genuardi, Maurizio
1-gen-2016 Assessment of the InSiGHT Interpretation Criteria for the Clinical Classification of 24 MLH1 and MSH2 Gene Variants. Tricarico, R; Kasela, M; Mareni, C; Thompson, Ba; Drouet, A; Staderini, L; Gorelli, G; Crucianelli, F; Ingrosso, V; Kantelinen, J; Papi, L; De Angioletti, M; Berardi, M; Gaildrat, P; Soukarieh, O; Turchetti, D; Martins, A; Spurdle, Ab; Nyström, M; Genuardi, Maurizio
1-gen-2016 Association of putative fungal effectors in Fusarium oxysporum with wilt symptoms in soybean Ellis, Margaret L.; Lanubile, Alessandra; Garcia, Charlie; Munkvold, Gary P.
1-gen-2017 ATP1A3 mutant patient with alternating hemiplegia of childhood and brain spectroscopic abnormalities. Giacanelli, M; Petrucci, A; Lispi, L; Luna, R; Neri, G; Gurrieri, F; Angelini, C
1-gen-2018 ATP1A3 spectrum disorders: A video-documented history of 7 genetically confirmed early onset cases. Stagnaro, M; Pisciotta, L; Gherzi, M; Di Rocco, M; Gurrieri, F; Parrini, E; Prato, G; Veneselli, E; De Grandis, E.
1-gen-2017 ATXN2 trinucleotide repeat length correlates with risk of ALS Sproviero, William; Shatunov, Aleksey; Stahl, Daniel; Shoai, Maryam; van Rheenen, Wouter; Jones, Ashley R; Al Sarraj, Safa; Andersen, Peter M; Bonini, Nancy M; Conforti, Francesca L; Van Damme, Philip; Daoud, Hussein; Del Mar Amador, Maria; Fogh, Isabella; Forzan, Monica; Gaastra, Ben; Gellera, Cinzia; Gitler, Aaron D; Hardy, John; Fratta, Pietro; La Bella, Vincenzo; Le Ber, Isabelle; Van Langenhove, Tim; Lattante, Serena; Lee, Yi Chung; Malaspina, Andrea; Meininger, Vincent; Millecamps, Stéphanie; Orrell, Richard; Rademakers, Rosa; Robberecht, Wim; Rouleau, Guy; Ross, Owen A; Salachas, Francois; Sidle, Katie; Smith, Bradley N; Soong, Bing Wen; Sorarù, Gianni; Stevanin, Giovanni; Kabashi, Edor; Troakes, Claire; van Broeckhoven, Christine; Veldink, Jan H; van den Berg, Leonard H; Shaw, Christopher E; Powell, John F; Al Chalabi, Ammar
1-gen-2017 An autosomal recessive DNASE1L3-related autoimmune disease with unusual clinical presentation mimicking systemic lupus erythematosus Carbonella, Angela; Mancano, Giorgia; Gremese, Elisa; Alkuraya, F. S.; Patel, N.; Gurrieri, Fiorella; Ferraccioli, Gianfranco
1-gen-2016 The Auxin-Deficient Defective Kernel18 (dek18) Mutation Alters the Expression of Seed-Specific Biosynthetic Genes in Maize Bernardi, Jamila; Li, Qin Bao; Gao, Yangbin; Zhao, Yunde; Battaglia, Raffaella; Marocco, Adriano; Chourey, Prem S.
1-gen-2021 Basic and Preclinical Research for Personalized Medicine Lattanzi, Wanda; Ripoli, Cristian; Greco, Viviana; Barba, Marta; Iavarone, Federica; Minucci, Angelo; Urbani, Andrea; Grassi, Claudio; Parolini, Ornella
1-gen-2016 Breeding corn for resistance to Fusarium ear rot: an integrated approach of transcriptomics, metabolomics and genomics. Lanubile, Alessandra
1-gen-2020 Burkitt lymphoma as fourth neoplasia in a patient affected by cowden syndrome with a novel PTEN germline pathogenic variant Galli, E.; Malafronte, R.; Brugnoletti, F.; Zollino, M.; Hohaus, S.; D'Alo, F.
Mostrati risultati da 1 a 20 di 151
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