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Data di pubblicazione Titolo Autore(i) File
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, Giovanni; Gurrieri, Fiorella; 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, Fiorella; 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-2000 Biphasic kinetics of the human DNA repair protein MED1 (MBD4), a mismatch-specific DNA N-glycosylase Petronzelli, F; Riccio, A; Markham, G; Seeholzer, S; Stoerker, J; Genuardi, Maurizio; Yeung, A; Matsumoto, Y; Bellacosa, A
1-gen-2002 BRCA1-related malignancies in a family presenting with von Recklinghausen's disease Ceccaroni, Marcello; Genuardi, Maurizio; Legge, F; Lucci-Cordisco, E; Carrara, S; D'Amico, F; Greggi, S; Scambia, Giovanni
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, Eugenio; Malafronte, Rosalia; Brugnoletti, F.; Zollino, Marcella; Hohaus, Stefan; D'Alo, F.
1-gen-2004 Cancer risk in hereditary nonpolyposis colorectal cancer due to MSH6 mutations: Impact on counseling and surveillance Hendriks, Y; Wagner, A; Morreau, H; Menko, F; Stormorken, A; Quehenberger, F; Sandkuijl, L; Moller, P; Genuardi, Maurizio; Van Houwelingen, H; Tops, C; Van Puijenbroek, M; Verkuijlen, P; Kenter, G; Van Mil, A; Meijers-Heijboer, H; Tan, G; Breuning, M; Fodde, R; Wijnen, J; Brocker-Vriends, A; Vasen, H
1-gen-2021 CDKL5 mutations may mimic Pitt-Hopkins syndrome phenotype Curro, A.; Doddato, G.; Bruttini, M.; Zollino, Marcella; Marangi, Giuseppe; Zappella, M.; Renieri, A.; Pinto, A. M.
1-gen-2001 CDKN2A germline splicing mutation affecting both P16(ink4) and P14(arf) RNA processing in a melanoma/neurofibroma kindred Petronzelli, F; Sollima, D; Coppola, G; Martini-Neri, M; Neri, G; Genuardi, Maurizio
1-gen-2016 CGG Repeat-Induced FMR1 Silencing Depends on the Expansion Size in Human iPSCs and Neurons Carrying Unmethylated Full Mutations Brykczynska, Urszula; Pecho Vrieseling, Eline; Thiemeyer, Anke; Klein, Jessica; Fruh, Isabelle; Doll, Thierry; Manneville, Carole; Fuchs, Sascha; Iazeolla, Mariavittoria; Beibel, Martin; Roma, Guglielmo; Naumann, Ulrike; Kelley, Nicholas; Oakeley, Edward J.; Mueller, Matthias; Gomez Mancilla, Baltazar; Bühler, Marc; Tabolacci, Elisabetta; Chiurazzi, Pietro; Neri, Giovanni; Bouwmeester, Tewis; Di Giorgio, Francesco Paolo; Fodor, Barna D.
1-gen-1998 Characterization of MLH1 and MSH2 alternative splicing and its relevance to molecular testing of colorectal cancer susceptibility Genuardi, Maurizio; Viel, A; Bonora, D; Capozzi, E; Bellacosa, A; Leonardi, F; Valle, R; Ventura, A; Pedroni, M; Boiocchi, M; Neri, G
1-gen-1997 Characterization of MSH2 and MLH1 mutations in Italian families with hereditary nonpolyposis colorectal cancer Viel, A; Genuardi, Maurizio; Capozzi, E; Leonardi, F; Bellacosa, A; Paravatoupetsotas, M; Pomponi, Massimiliano; Fornasarig, M; Percesepe, A; Roncucci, L; Tamassia, M; Benatti, P; Deleon, M; Valenti, A; Covino, Marcello; Anti, M; Foletto, M; Boiocchi, M; Neri, G
1-gen-1997 Characterization of MSH2 and MLH1 mutations in Italian families with hereditary nonpolyposis colorectal cancer Viel, A; Genuardi, Maurizio; Capozzi, E; Leonardi, F; Bellacosa, A; Paravatoupetsotas, M; Pomponi, Massimiliano; Fornasarig, M; Percesepe, A; Roncucci, L; Tamassia, M; Benatti, P; Deleon, M; Valenti, A; Covino, Marcello; Anti, M; Foletto, M; Boiocchi, M; Neri, G
1-gen-2021 The climatic and genetic heritage of Italian goat breeds with genomic SNP data Cortellari, Matteo; Barbato, Mario; Talenti, Andrea; Bionda, Arianna; Carta, Antonello; Ciampolini, Roberta; Ciani, Elena; Crisà, Alessandra; Frattini, Stefano; Lasagna, Emiliano; Marletta, Donata; Mastrangelo, Salvatore; Negro, Alessio; Randi, Ettore; Sarti, Francesca M.; Sartore, Stefano; Soglia, Dominga; Liotta, Luigi; Stella, Alessandra; Ajmone Marsan, Paolo; Pilla, Fabio; Colli, Licia; Crepaldi, Paola
1-gen-2001 Clinical and biologic heterogeneity of hereditary nonpolyposis colorectal cancer Benatti, P; Roncucci, L; Ganazzi, D; Percesepe, A; Di Gregorio, Cristina; Pedroni, M; Borghi, F; Sala, E; Scarselli, A; Menigatti, M; Rossi, G; Genuardi, Maurizio; Viel, A; de Leon, M
Mostrati risultati da 16 a 35 di 240
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