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Data di pubblicazione Titolo Autore(i) File
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, Maurizio; 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, Mario; Ajmone Marsan, Paolo; Colli, Licia; 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-2020 Disease expression in juvenile polyposis syndrome: a retrospective survey on a cohort of 221 European patients and comparison with a literature-derived cohort of 473 SMAD4/BMPR1A pathogenic variant carriers Robert Blatter, # 1; Benjamin Tschupp, # 1; Stefan Aretz, 2 3; Inge Bernstein, 4; Chrystelle Colas, 5 6; D Gareth Evans, 7; Genuardi, Maurizio; Frederik, J Hes 10; Robert Hüneburg, 3 11; Heikki Järvinen, 12; Fiona Lalloo, 7; Gabriela Moeslein, 13; Laura Renkonen-Sinisalo, 12; Nicoletta Resta, 14; Isabel Spier, 2 3; Dora Varvara, 14; Hans Vasen, 15; Andrew, R Latchford 16; Karl Heinimann, 17
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.
1-gen-2014 Distinct neurological disorders with ATP1A3 mutations. Gurrieri, Fiorella; Heinzen, Erin; Arzimanoglou, A; Brashear, A; Clapcote, S; Goldstein, D; Joannesson, S; Mikati, M; Neville, B; Nicole, S; Ozelius, L; Poulsen, A; Schyns, T; Sweander, K; Maagdenberg, A; Vilsen, B.
1-gen-1993 Distribution of alleles and genotypes from three hypervariable DNA loci in individuals from central and southern Italy Dobosz, Marina; D'Aloja, Ernesto; Pescarmona, M; Moscetti, A; Pascali, Vincenzo Lorenzo
1-gen-2019 Diversity of copy number variation in the worldwide goat population Liu, Mei; Zhou, Yang; Rosen, Benjamin D.; Van Tassell, Curtis P.; Stella, Alessandra; Tosser-Klopp, Gwenola; Rupp, Rachel; Palhière, Isabelle; Colli, Licia; Sayre, Brian; Crepaldi, Paola; Fang, Lingzhao; Mészáros, Gábor; Chen, Hong; Liu, George E.
1-gen-2001 DNA commission of the International Society of Forensic Genetics: recommendations on forensic analysis using Y-chromosome STRs Gill, P.; Brenner, C.; Brinkmann, B.; Budowle, B.; Carracedo, A.; Jobling, M. a.; De Knijff, P.; Kayser, M.; Krawczak, M.; Mayr, W. r.; Morling, N.; Olaisen, B.; Pascali, Vincenzo Lorenzo; Prinz, M.; Roewer, L.; Schneider, P. m.; Sajantila, A.; Tyler Smith, C.
1-gen-2009 Down syndrome: comments and reflections on the 50th anniversary of Lejeune's discovery. Neri, Giovanni; Opitz, Jm
1-gen-2014 Drug resistance and BCR-ABL kinase domain mutations in philadelphia chromosome-positive acute lymphoblastic leukemia from the imatinib to the second-generation tyrosine kinase inhibitor era: The main changes are in the type of mutations, but not in the frequency of mutation involvement Soverini, S; De Benedittis, C; Papayannidis, C; Paolini, S; Venturi, C; Iacobucci, I; Luppi, M; Bresciani, P; Salvucci, M; Russo, D; Sica, Simona; Orlandi, E; Intermesoli, T; Gozzini, A; Bonifacio, M; Rigolin, Gm; Pane, F; Baccarani, M; Cavo, M; Martinelli, G.
Mostrati risultati da 34 a 53 di 167
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