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Sfoglia per ???browse.type.metadata.subjectErc2011???  LS2_9 - Genetic epidemiology

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Data di pubblicazione Titolo Autore(i) File
1-gen-2009 Early onset myoclonic epilepsy and 15q26 microdeletion: observation of the first case Veredice, Chiara; Bianco, Flaviana; Contaldo, Ilaria; Orteschi, Daniela; Stefanini, Maria Chiara; Battaglia, Domenica Immacolata; Lettori, Donatella; Guzzetta, Francesco; Zollino, Marcella
1-gen-2013 Effect of Proinflammatory Gene Polymorphisms on the Risk of Alzheimer's Disease. Flex, Andrea; Giovannini, Silvia; Biscetti, Federico; Liperoti, Rosa; Landi, Francesco; Bernabei, Roberto
1-gen-2011 Efficacy and tolerability of 5-aminolevulinic acid 0.5% liposomal spray and intense pulsed light in wrinkle reduction of photodamaged skin Piccioni, A; Fargnoli, Mc; Schoinas, S; Suppa, M; Frascione, P; Ginebri, A; Chimenti, S; Peris, Ketty
1-gen-2018 Electroclinical features of epilepsy associated with 1p36 deletion syndrome: A review Greco, M.; Ferrara, Pietro; Farello, G.; Striano, P.; Verrotti, A.
1-gen-2009 Elements of morphology: standard terminology for the head and face. Neri, Giovanni; Allanson, Judith E; Cuniff, Christopher; Homme, Eugene H; Mcgaughran, Julie; Muenke, Max
1-gen-2013 Encomium: Giovanni Neri--polyhedral and down-to-earth mentor Genuardi, Maurizio; Gurrieri, Fiorella; Zollino, Marcella
1-gen-2013 Epilepsy in Mowat-Wilson syndrome: delineation of the electroclinical phenotype Cordelli, Dm; Garavelli, L; Savasta, S; Guerra, A; Pellicciari, A; Giordano, L; Bonetti, S; Cecconi, I; Wischmeijer, A; Seri, M; Rosato, S; Gelmini, C; Della Giustina, E; Ferrari, Ar; Zanotta, N; Epifanio, R; Grioni, D; Malbora, B; Mammi, I; Mari, F; Buoni, S; Mostardini, R; Grosso, S; Pantaleoni, C; Doz, M; Poch Olivé, Ml; Rivieri, F; Sorge, G; Simonte, G; Licata, F; Tarani, L; Terazzi, E; Mazzanti, L; Cerruti Mainardi, P; Boni, A; Faravelli, F; Grasso, M; Bianchi, P; Zollino, Marcella; Franzoni, E.
1-gen-2013 Epilepsy in ring 14 syndrome: a clinical and EEG study of 22 patients Giovannini, Silvia; Marangio, L; Fusco, C; Scarano, A; Frattini, D; Della Giustina, E; Zollino, Marcella; Neri, Giovanni; Gobbi, G.
1-gen-2009 Evidence for a founder effect of the MPL-S505N mutation in eight Italian pedigrees with hereditary thrombocythemia Liu, K; Martini, Maurizio; Rocca, Bianca; Amos, Ci; Teofili, Luciana; Giona, F; Ding, J; Komatsu, H; Larocca, Luigi Maria; Skoda, Rc
1-gen-2016 Fibroblast growth factor 23 serum level in type 2 diabetic italian subjects with peripheral arterial disease and critical limb ischemia. Biscetti, Federico; Straface, Giuseppe; Pitocco, Dario; Angelini, Flavia; Tinelli, Giovanni; Landolfi, Raffaele; Flex, Andrea
1-gen-2013 Focal dermal hypoplasia (goltz-gorlin syndrome): A new case with a novel variant in the PORCN gene (c.1250T > C:p.F417S) and unusual spinal anomaly Garavelli, L; Simonte, G; Rosato, S; Wischmeijer, A; Albertini, E; Guareschi, E; Longo, C; Albertini, G; Gelmini, C; Greco, C; Errico, S; Pavanello, M; Happle, R; Unger, S; Superti Furga, A; Grzeschik, K; Savino, Gustavo
1-gen-2013 Formoterol-induced downregulation of the beta2-adrenoceptor in asthmatics with homozygous glycine-16 polymorphism Fuso, Leonello; Di Perna, Alessandra; Longobardi, Anna; Trove', Andrea; Bisceglia, Michela; Bibi, Benedetta; Angelozzi, Carla; Tiziano, Francesco Danilo; Antonelli Incalzi, Raffaele
1-gen-2009 Further evidence that the rs1858830 C variant in the promoter region of the MET gene is associated with autistic disorder Gurrieri, Fiorella; Neri, Giovanni; Boccuto, Luigi
1-gen-2021 Gene expression profiling of pancreas neuroendocrine tumors with different ki67‐based grades Simbolo, M.; Bilotta, M.; Mafficini, A.; Luchini, C.; Furlan, D.; Inzani, F.; Petrone, G.; Bonvissuto, D.; Rosa, S. L.; Schinzari, G.; Bianchi, A.; Rossi, E.; Menghi, R.; Giuliante, F.; Boccia, S.; Scarpa, A.; Rindi, G.
1-gen-2007 -Genetic analysis of the dystroglycan gene in brochopulmnary dysplasia affected premature newbors Concolino, P.; Capoluongo, E.; Santonocito, E.; Vento, Giovanni; Tana, Milena; Romagnoli, Costantino; Zuppi, Cecilia; Ameglio, F.; Brancaccio, A.; Sciandra, F.
1-gen-2014 Genetic causes of amyotrophic lateral sclerosis: new genetic analysis methodologies entailing new opportunities and challenges Marangi, Giuseppe; Traynor, Bj
1-gen-2013 Genetic counselling in ALS: facts, uncertainties and clinical suggestions Chiò, A; Battistini, S; Calvo, A; Caponnetto, C; Conforti, Fl; Corbo, M; Giannini, F; Mandrioli, J; Mora, G; Sabatelli, Mario; Ajmone, C; Mastro, E; Pain, D; Mandich, P; Penco, S; Restagno, G; Zollino, Marcella; Surbone, A.
1-gen-2010 Genome-wide association study identifies a sequence variant within the DAB2IP gene conferring susceptibility to abdominal aortic aneurysm Pola, Roberto; Gaetani, Eleonora
1-gen-2015 A Genome-wide Association Study of Myasthenia Gravis Renton, Ae; Pliner, Ha; Provenzano, Carlo; Evoli, Amelia; Ricciardi, R; Nalls, Ma; Marangi, Giuseppe; Abramzon, Y; Arepalli, S; Chong, S; Hernandez, Dg; Johnson, Jo; Bartoccioni, Emanuela; Scuderi, Flavia; Maestri, M; Gibbs, Jr; Errichiello, E; Chiò, A; Restagno, G; Sabatelli, Mario; Macek, M; Scholz, Sw; Corse, A; Chaudhry, V; Benatar, M; Barohn, Rj; Mcvey, A; Pasnoor, M; Dimachkie, Mm; Rowin, J; Kissel, J; Freimer, M; Kaminski, Hj; Sanders, Db; Lipscomb, B; Massey, Jm; Chopra, M; Howard, Jf; Koopman, Wj; Nicolle, Mw; Pascuzzi, Rm; Pestronk, A; Wulf, C; Florence, J; Blackmore, D; Soloway, A; Siddiqi, Z; Muppidi, S; Wolfe, G; Richman, D; Mezei, Mm; Jiwa, T; Oger, J; Drachman, Db; Traynor, Bj
1-gen-2011 A genome-wide association study of upper aerodigestive tract cancers conducted within the INHANCE consortium. Boccia, Stefania; Inhance, Consortium
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