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-2022 Canonical and uncanonical pathogenic germline variants in colorectal cancer patients by next-generation sequencing in a European referral center Poliani, L; Greco, L; Barile, M; Buono, Ad; Bianchi, P; Basso, G; Giatti, V; Genuardi, Maurizio; Malesci, A; Laghi, L
1-gen-1999 Carbohydrate-deficient transferrin determination revisited with capillary electrophoresis: a new biochemical marker of chronic alcohol abuse Tagliaro, Franco; Bortolotti, F; Zuliani, M; Crivellente, F; Manetto, G; Pascali, Vincenzo Lorenzo; Marigo, M.
1-gen-2020 CDK5RAP2 primary microcephaly is associated with hypothalamic, retinal and cochlear developmental defects Nasser, H.; Vera, L.; Elmaleh-Berges, M.; Steindl, K.; Letard, P.; Teissier, N.; Ernault, A.; Guimiot, F.; Afenjar, A.; Moutard, M. L.; Heron, D.; Alembik, Y.; Momtchilova, M.; Milani, P.; Kubis, N.; Pouvreau, N.; Zollino, M.; Guilmin Crepon, S.; Kaguelidou, F.; Gressens, P.; Verloes, A.; Rauch, A.; El Ghouzzi, V.; Drunat, S.; Passemard, S.
1-gen-2014 Central Hypogonadism (ICH). Germline prokineticin Receptor 2 (PROKR2) variants associated with central hypogonadism cause differential modulation of distinct intracellular pathways. Libri, D. V.; Kleinau, G.; Vezzoli, V.; Busnelli, M.; Guizzardi, F.; Sinisi, A. A.; Pincelli, A. I.; Mancini, Antonio; Russo, G.; Beck Peccoz, P.; Loche, S.; Crivellaro, C.; Maghnie, M.; Krausz, C.; Persani, L.; Bonomi, M.
1-gen-2022 The challenge of the Molecular Tumor Board empowerment in clinical oncology practice: A Position Paper on behalf of the AIOM- SIAPEC/IAP-SIBioC-SIC-SIF-SIGU-SIRM Italian Scientific Societies Antonio Russo, 1; Lorena Incorvaia, 2; Ettore Capoluongo, 3; Pierosandro Tagliaferri, 4; Antonio Galvano, 2; Marzia Del Re, 5; Umberto Malapelle, 6; Rita Chiari, 7; Pierfranco Conte, 8; Romano Danesi, 5; Matteo Fassan, 9; Roberto Ferrara, 10; Genuardi, M; Paola Ghiorzo, 12; Stefania Gori, 13; Fiorella Guadagni, 14; Antonio Marchetti, 15; Paolo Marchetti, 16; Massimo Midiri, 17; Nicola Normanno, 18; Francesco Passiglia, 19; Carmine Pinto, 20; Nicola Silvestris, 21; Giovanni Tallini, 22; Simona Vatrano, 23; Bruno Vincenzi, 24; Saverio Cinieri, 25; Giordano Beretta, 26
1-gen-2011 Characterization of a novel transcript of the EHMT1 gene reveals important diagnostic implications for Kleefstra syndrome Neri, Giovanni; Nillesen, Wm; Yntema, Hg; Moscarda, Marco; Verbeek, Ne; Wilson, Lc; Cowan, F; Schepens, M; Raas Rothschild, A; Gafni, Weinstein; Zollino, Marcella; Vijzelaar, R; Nelen, M; Bokhoven, H; Giltay, J; Kleefstra, T.
1-gen-2009 Characterization of anti-D monoclonal antibody reagents based on their reactivity with the weak D phenotype Pascali, Vincenzo Lorenzo; Lai, Marco; Grasso, Cinzia; Boschi, Ilaria; D'Onofrio, Giuseppe; Leone, Giuseppe
1-gen-1988 Characterization of genetic variants of human serum transferrin by isoelectric focusing: Comparison between conventional and immobilized pH gradients, and application to a protocol for paternity testing Pascali, Vincenzo Lorenzo; Dobosz, Marina; Destro Bisol, G; D'Aloja, Ernesto
1-gen-1994 Chimpanzee DNA profiles on trial Pascali, Vincenzo Lorenzo; Destro Bisol, G.; Dobosz, Marina; D'Aloja, Ernesto; Paonessa, G.; Mereu, U.
1-gen-1998 Clinal variation in the nuclear DNA of Europeans Chikhi, L; Destro Bisol, G; Pascali, Vincenzo Lorenzo; Baravelli, V; Dobosz, Marina; Barbujani, G.
1-gen-2009 Clinal variation in the nuclear DNA of Europeans. 1998 Chikhi, L; Destro Bisol, G; Pascali, Vincenzo Lorenzo; Baravelli, V; Dobosz, Marina; Barbujani, G.
1-gen-1998 Clines of nuclear DNA markers suggest a largely Neolithic ancestry of the European gene pool Chikhi, L.; Destro Bisol, G.; Bertorelle, G.; Pascali, Vincenzo Lorenzo; Barbujani, G.
1-gen-2013 Clinical and genetic heterogeneity of amyotrophic lateral sclerosis Sabatelli, Mario; Conte, Amelia; Zollino, Marcella
1-gen-2011 Clinical, electrocardiographic, and electrophysiologic characteristics of patients with a fasciculoventricular pathway: The role of PRKAG2 mutation Sternick, Eb; Oliva, Antonio; Gerken, Lm; Magalhães, L; Scarpelli, R; Correia, Fs; Rego, S; Santana, O; Brugada, R; Wellens, Hj
1-gen-2021 Co-occurrence of fragile x syndrome with a second genetic condition: Three independent cases of double diagnosis Tabolacci, Elisabetta; Pomponi, M. G.; Remondini, L.; Pietrobono, R.; Orteschi, D.; Nobile, Veronica; Pucci, Cecilia; Musto, Elisa; Pane, Marika; Mercuri, Eugenio Maria; Neri, G.; Genuardi, Maurizio; Chiurazzi, Pietro; Zollino, Marcella
1-gen-2020 Complex Muco-cutaneous Manifestations of CARMIL2-associated Combined Immunodeficiency: A Novel Presentation of Dysfunctional Epithelial Barriers Marangi, G.; Garcovich, S.; Di Sante, G.; Orteschi, D.; Frangella, S.; Scaldaferri, F.; Genuardi, M.; Peris, K.; Gurrieri, F.; Zollino, M.
1-gen-2019 Constitutional mismatch repair deficiency-associated brain tumors: report from the European C4CMMRD consortium Léa Guerrini-Rousseau, 1 2; Pascale Varlet, 3; Chrystelle Colas, 4; Felipe Andreiuolo, 3; Franck Bourdeaut, 5; Karin Dahan, 6; Christine Devalck, 7; Cécile Faure-Conter, 8; Genuardi, M.; Yael Goldberg, 11; Michaela Kuhlen, 12; Salma Moalla, 13; Enrico Opocher, 14; Vanessa Perez-Alonso, 15; Astrid Sehested, 16; Irene Slavc, 17; Sheila Unger, 18; Katharina Wimmer, 19; Jacques Grill, 1 2; Laurence Brugières, 1
1-gen-2020 Contribution of mRNA Splicing to Mismatch Repair Gene Sequence Variant Interpretation Bryony, A Thompson 1 2; Rhiannon Walters, 3; Michael, T Parsons 3; Troy Dumenil, 3; Mark Drost, 4; Yvonne Tiersma, 4; Noralane, M Lindor 5; Sean, V Tavtigian 6; Niels de Wind, 4; Amanda, B Spurdle 3; Genuardi, M.; InSiGHT Variant Interpretation Collaborators, Affiliations expand
1-gen-1998 Coordinating Y-chromosomal STR research for the courts Pascali, Vincenzo Lorenzo; Dobosz, Marina; Brinkmann, B.
1-gen-2019 Deciphering the patterns of genetic admixture and diversity in southern European cattle using genome-wide SNPs Upadhyay, M.; Bortoluzzi, C.; Barbato, M.; Ajmone Marsan, P.; Colli, L.; Ginja, C.; Sonstegard, T. S.; Bosse, M.; Lenstra, J. A.; Groenen, M. A. M.; Crooijmans, R. P. M. A.
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