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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-2012 p73 G4C14-to-A4T14 gene polymorphism and interaction with p53 exon 4 Arg72Pro on cancer susceptibility: a meta-analysis of the literature De Feo, Emma; Simone, Benedetto; Kamgaing, Rachel Simo; Gallì, Paola; Hamajima, Nobuyuki; Hu, Zhibin; Li, Guojun; Li, Yuan; Matsuo, Keitaro; Park, Jae Yong; Roychoudhury, Susanta; Spitz, Margaret R; Wei, Qingyi; Zhang, Jian Hui; Ricciardi, Gualtiero; Boccia, Stefania
1-gen-2012 Patterns of Y-STR variation in Italy. Brisighelli, Francesca; Blanco Verea, A; Boschi, Ilaria; Garagnani, P; Pascali, Vincenzo Lorenzo; Carracedo, A; Capelli, Cristian; Salas, A.
1-gen-2018 Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care Ivanovski, Ivan; Djuric, Olivera; Caraffi, Stefano Giuseppe; Santodirocco, Daniela; Pollazzon, Marzia; Rosato, Simonetta; Cordelli, Duccio Maria; Abdalla, Ebtesam; Accorsi, Patrizia; Adam, Margaret P; Ajmone, Paola Francesca; Badura-Stronka, Magdalena; Baldo, Chiara; Baldi, Maddalena; Bayat, Allan; Bigoni, Stefania; Bonvicini, Federico; Breckpot, Jeroen; Callewaert, Bert; Cocchi, Guido; Cuturilo, Goran; De Brasi, Daniele; Devriendt, Koenraad; Dinulos, Mary Beth; Hjortshøj, Tina Duelund; Epifanio, Roberta; Faravelli, Francesca; Fiumara, Agata; Formisano, Debora; Giordano, Lucio; Grasso, Marina; Grønborg, Sabine; Iodice, Alessandro; Iughetti, Lorenzo; Kuburovic, Vladimir; Kutkowska-Kazmierczak, Anna; Lacombe, Didier; Lo Rizzo, Caterina; Luchetti, Anna; Malbora, Baris; Mammi, Isabella; Mari, Francesca; Montorsi, Giulia; Moutton, Sebastien; Møller, Rikke S; Muschke, Petra; Nielsen, Jens Erik Klint; Obersztyn, Ewa; Pantaleoni, Chiara; Pellicciari, Alessandro; Pisanti, Maria Antonietta; Prpic, Igor; Poch-Olive, Maria Luisa; Raviglione, Federico; Renieri, Alessandra; Ricci, Emilia; Rivieri, Francesca; Santen, Gijs W; Savasta, Salvatore; Scarano, Gioacchino; Schanze, Ina; Selicorni, Angelo; Silengo, Margherita; Smigiel, Robert; Spaccini, Luigina; Sorge, Giovanni; Szczaluba, Krzysztof; Tarani, Luigi; Tone, Luis Gonzaga; Toutain, Annick; Trimouille, Aurelien; Valera, Elvis Terci; Vergano, Samantha Schrier; Zanotta, Nicoletta; Zenker, Martin; Conidi, Andrea; Zollino, Marcella; Rauch, Anita; Zweier, Christiane; Garavelli, Livia
1-gen-2013 Polymorphism of Beta2-Adrenoceptor and Regular Use of Formoterol in Asthma: Preliminary Results Fuso, Leonello; Di Perna, Alessandra; Longobardi, Anna; Trove', Andrea; Bisceglia, Michela; Bibi, Benedetta; Angelozzi, Carla; Tiziano, Francesco Danilo; Antonelli Incalzi, Raffaele
1-gen-2013 Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders. Boccuto, Luigi; Lauri, Maria; Sarasua, Sm; Skinner, Cd; Buccella, D; Dwivedi, A; Zollino, Marcella; Orteschi, Daniela; Visconti, P; Dupont, B; Tiziano, Francesco Danilo; Schroer, Rj; Neri, Giovanni; Stevenson, Re; Gurrieri, Fiorella; Schwartz, Ce; Collins, Js
1-gen-2007 Pro-Inflammatory Genetic Profiles in Subjects with Peripheral Arterial Occlusive Disease and Critical Limb Ischemia Flex, Andrea; Gaetani, Eleonora; Angelini, Flavia; Sabusco, Alexandra; Chillà, Carmen; Straface, Giuseppe; Biscetti, Federico; Pola, Paolo; Castellot, John; Pola, Roberto
1-gen-2010 Proceeding from the 2009 genetic syndromes of the Ras/MAPK pathway: from bedside to bench and back Neri, Giovanni; Rauen, Anita; Carey, John; Hagerman, Randi; Tartaglia, Marco
1-gen-2009 Proceedings from the 2009 genetic syndromes of the Ras/MAPK pathway: from bedside to bench and back Neri, Giovanni
1-gen-2018 Prominent and elongated coccyx, a new manifestation of KBG syndrome associated with novel mutation in ANKRD11 De Bernardi, M. L.; Ivanovski, I.; Caraffi, S. G.; Maini, I.; Street, M. E.; Bayat, A.; Zollino, Marcella; Lepri, F. R.; Gnazzo, M.; Errichiello, E.; Superti-Furga, A.; Garavelli, L.
1-gen-2010 Protocadherin 19 mutations in girls with infantile-onset epilepsy Marini, C; Mei, Daniele; Parmeggiani, L; Norci, V; Calado, E; Ferrari, A; Moreira, A; Pisano, T; Specchio, N; Vigevano, F; Battaglia, Domenica Immacolata; Guerrini, R.
1-gen-2016 RANK/RANKL/OPG pathway: genetic association with history of ischemic stroke in Italian population Biscetti, Federico; Giovannini, Silvia; Straface, Giuseppe; Bertucci, Flavio; Angelini, Flavia; Porreca, Carlo Filippo; Landolfi, Raffaele; Flex, Andrea
1-gen-2009 Recent origin and spread of a common Welsh MAPT splice mutation causing frontotemporal lobar degeneration. Colombo, Roberto; Tavian, Daniela; Baker, Matthew; Richardson, Anna; Snowden, Julie; Neary, David; Mann, David; Pickering Brown, Stuart
1-gen-2014 Report of two never treated adult sisters with aromatic L-amino Acid decarboxylase deficiency: a portrait of the natural history of the disease or an expanding phenotype? Leuzzi, V; Mastrangelo, M; . Polizzi, A; Artiola, C; Van Kuilenburg, A; Carducci, C; Ruggieri, M; Barone, R; Tavazzi, Barbara; Abeling, Nggm; Zoetekouw, L; Sofia, V; Zappia, T; Carducci, Cl
1-gen-2023 Retinitis Pigmentosa Associated with EYS Gene Mutations: Disease Severity Staging and Central Retina Atrophy Placidi, Giorgio; Maltese, Paolo Enrico; Savastano, Maria Cristina; D'Agostino, Elena; Cestrone, Valentina; Bertelli, Matteo; Chiurazzi, Pietro; Maceroni, Martina; Minnella, Angelo Maria; Ziccardi, Lucia; Parisi, Vincenzo; Rizzo, Stanislao; Falsini, Benedetto
1-gen-2010 Salbutamol increases serviva motor neuron (SMN) patients: relevance for clinical trial design -
1-gen-2015 Screening for Complex Diseases and Personalized Health Care Boccia, Stefania; Boffetta, P; Villari, P.
1-gen-2012 Single nucleotide polymorphisms associated with sporadic brain arteriovenous malformations: where do we stand? Pola, Roberto; Sturiale, Carmelo Lucio; Puca, Alfredo; Albanese, Alessio; Di Rocco, Concezio; Maira, Giulio; Gatto, Ilaria; Sebastiani, Paola
1-gen-2012 Small effective population size and genetic homogeneity in the Val Borbera isolate Colonna, V; Pistis, G; Bomba, L; Mona, S; Matullo, G; Boano, R; Sala, C; Viganò, F; Torroni, A; Achilli, A; Hooshiar Kashani, B; Malerba, G; Gambaro, Giovanni; Soranzo, N; Toniolo, D; Bomba, Lorenzo
1-gen-2021 Smith–Magenis syndrome: Report of morphological and new functional cardiac findings with review of the literature Onesimo, Roberta; Versacci, P.; Delogu, Angelica Bibiana; De Rosa, Gabriella; Pugnaloni, F.; Blandino, Rita; Leoni, Chiara; Calcagni, G.; Digilio, M. C.; Zollino, Marcella; Marino, B.; Zampino, Giuseppe
1-gen-2014 'Stochastic' effects at balanced mixtures: a calibration study Pascali, Vincenzo Lorenzo; Merigioli, Sara
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