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Data di pubblicazione Titolo Autore(i) File
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-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, E.; Pomponi, M. G.; Remondini, L.; Pietrobono, R.; Orteschi, D.; Nobile, V.; Pucci, C.; Musto, E.; Pane, M.; Mercuri, E. M.; Neri, G.; Genuardi, M.; Chiurazzi, P.; Zollino, M.
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-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.
1-gen-1981 Determination of alpha-1-antitrypsin subtypes in the population of Rome. A study in ultrathin-layer isoelectric focusing Pascali, Vincenzo Lorenzo; De Mercurio, Domenico
1-gen-1988 Determination of neutral haemoglobin variants by immobilized pH gradient, reversed-phase high-performance liquid chromatography and fast-atom bombardment mass spectrometry: The case of a Hb torino α 43 (CE1) Phe→Val Castagnola, Massimo; Dobosz, Marina; Landolfi, Raffaele; Pascali, Vincenzo Lorenzo; De Angelis, F.; Vettore, L.; Perona, G.
1-gen-2008 Discerning the Ancestry of European Americans in Genetic Association Studies Price, Al; Butler, J; Patterson, N; Capelli, Cristian; Pascali, Vincenzo Lorenzo; Scarnicci, Francesca; Ruiz Linares, A; Groop, L; Saetta, Aa; Korkolopoulou, P; Seligsohn, U; Waliszewska, A; Schirmer, C; Ardlie, K; Ramos, A; Nemesh, J; Arbeitman, L; Goldstein, Db; Reich, D; Hirschhorn, Jn
1-gen-2007 Distal phalangeal creases: More evidence of this feature in disorders of the Ras signaling pathway. Neri, Giovanni; Allanson, Judith; Kavamura, Ines; Noonan, J; Poss, A; Kerr, B.
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