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Sfoglia per ???browse.type.metadata.subjectErc2011???  LS2_1 - Genomics, comparative genomics, functional genomics

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Data di pubblicazione Titolo Autore(i) File
1-gen-2012 Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alstrom Syndromes. Redin, C; Le Gras, S.; Mhamdi, O; Geoffroy, V; Stoetzel, C; Vincent, Mc; Chiurazzi, Pietro; Lacombe, D; Ouertani, I; Petit, F; Till, M; Verloes, A; Jost, B; Chaabouni, Hb; Dollfus, H; Mandel, Jl; Muller, J.
1-gen-2004 The analysis of variation of mtDNA hypervariable region 1 suggests that Eastern and Western Pygmies diverged before the Bantu expansion Destro Bisol, G; Coia, Valentina; Boschi, Ilaria; Verginelli, F; Caglià, A; Pascali, Vincenzo Lorenzo; Spedini, G; Calafell, F.
1-gen-2003 The dark side of the UK national database Pascali, Vincenzo Lorenzo; Lago, Giampietro; Dobosz, Marina
1-gen-2009 The etruscan timeline: a recent Anatolian: a recent connection. Brisighelli, Francesca; Capelli, Cristian; Alvarez Iglesias, V; Onofri, V; Paoli, G; Tofanelli, S; Carracedo, A; Pascali, Vincenzo Lorenzo; Salas, A.
1-gen-2008 The Kruppel-like factor 6 genotype is associated with fibrosis in nonalcoholic fatty liver disease Miele, Luca; Beale, G; Patman, G; Nobili, V; Leathart, J; Grieco, Antonio; Abate, M; Friedman, Sl; Narla, G; Bugianesi, E; Day, Cp; Reeves, Hl
1-gen-1989 The use of DNA fingerprinting for medicolegal investigations in forensic identification [APPLICAZIONE DELLA METODOLOGIA DEL DNA FINGERPRINTING ALLE INDAGINI MEDICO-LEGALI DI IDENTIFICAZIONE PERSONALE. USO DELLA SONDA MOLECOLARE 3' HVR] Fiori, Angelo; D'Aloja, Ernesto; Dobosz, Marina; Destro Bisol, G; Pascali, Vincenzo Lorenzo
1-gen-1992 The use of immobilized pH gradients for the detection of human polymorphisms in the forensic identification of bloodstains Munoz Barus, I; Carracedo, A; Pascali, Vincenzo Lorenzo
1-gen-2020 Time for Change? The Why, What and How of Promoting Innovation to Tackle Rare Diseases - Is It Time to Update the EU's Orphan Regulation? And if so, What Should be Changed? Denis Horgan, 1; Barbara Moss, 2 3; Boccia, Stefania; Genuardi, Maurizio; Maciej Gajewski, 8; Gabriele Capurso, 9; Pierre Fenaux 10, 11; Beatrice Gulbis 11, 12; Mariangela Pellegrini 11, 13; Maria Del Mar Mañú Pereira 11, 14; Victoria Gutiérrez Valle 11, 14; Iñaki Gutiérrez Ibarluzea 15, 16; Alastair Kent, 17; Ivana Cattaneo, 18; Beata Jagielska, 19; Ivica Belina, 20; Birute Tumiene, 21; Adrian Ward, 22; Marisa Papaluca, 23
1-gen-2015 Transcriptome profiling of soybean (Glycine max) roots challenged with pathogenic and non-pathogenic isolates of Fusarium oxysporum. Lanubile, Alessandra; Muppirala, Usha; Severin, Andrew; Marocco, Adriano; Munkvold, Gary
1-gen-1985 Transferrin and infertility. Genetic-clinical investigations [TRANSFERRINA ED INFERTILITA: INDAGINE GENETICO-CLINICA. NOTA PRELIMINARE] Del Porto, G; Donnini, R; Baldi, M; Pascali, Vincenzo Lorenzo
1-gen-1982 Transferrin C subtypes in extremely premature newborn infants Auconi, P; Biagini, R; Colarizi, P; Pascali, Vincenzo Lorenzo
1-gen-1984 Transferrin subtypes in cystic fibrosis Pascali, Vincenzo Lorenzo; Bravo, E; Auconi, P.
1-gen-1983 Transferrin: Common and rare variants in Italy. Evidence for the existence of the rare Tf(C)6 among Caucasians Pascali, Vincenzo Lorenzo; Auconi, P.
1-gen-2010 Treatment with Valproic acid ameiorates ADHD symptoms in Fragile X syndrome boys. Neri, Giovanni; Torrioli, Maria Giulia; Vernacotola, Silvia; Setini, C.; Bevilacqua, F.; Martinelli, D.; Snape, M.; Hutchison, J. A; Di Raimo, Francesca Romana; Tabolacci, Elisabetta
1-gen-1987 Unusual transferrin TF*D mutants in some Congo populations Pascali, Vincenzo Lorenzo; Dobosz, Marina; Spedini, G.
1-gen-2013 Use of an expressed sequence tag-based method for single nucleotide polymorphism identification and discrimination of Citrus species and cultivars Marocco, Adriano; Bernardi, Jamila; Mazza, Raffaele; Caruso, Paola; Reforgiato Recupero, Giuseppe; Licciardello, Concetta
1-gen-2022 The use of polygenic risk scores in pre-implantation genetic testing: an unproven, unethical practice Francesca Forzano, 1; Olga Antonova, 2; Angus Clarke, 3; Guido de Wert, 4; Sabine Hentze, 5; Yalda Jamshidi, 6; Yves Moreau, 7; Markus Perola, 8; Inga Prokopenko, 9 10 11; Andrew Read, 12; Alexandre Reymond, 13; Vigdis Stefansdottir, 14; Carla van El, 15; Genuardi, M.; 16, 17; Executive Committee of the European Society of Human, Genetics; Public and Professional Policy Committee of the European Society of Human, Genetics
1-gen-2022 Variants of uncertain significance (VUS) in cancer predisposing genes: What are we learning from multigene panels? Lucci-Cordisco, E.; Amenta, S.; Panfili, A.; Del Valle, J.; Capellá, G.; Pineda, M.; Genuardi, M.
1-gen-2021 Variation in the risk of colorectal cancer in families with Lynch syndrome: a retrospective cohort study Genuardi, Maurizio; International Mismatch Repair, Consortium
1-gen-2011 West syndrome associated with 14q12 duplications harboring FOXG1 Striano, P; Paravidino, R; Sicca, F; Chiurazzi, Pietro; Gimelli, S; Coppola, A; Robbiano, A; Traverso, M; Pintaudi, M; Giovannini, S; Operto, F; Vigliano, P; Granata, T; Coppola, G; Romeo, A; Specchio, N; Giordano, L; Osborne, Lr; Gimelli, G; Minetti, C; Zara, F.
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