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Data di pubblicazione Titolo Autore(i) File
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.
1-gen-1991 Efficient, small scale electroelution of high molecular weight DNA from agarose gels by a miniature vertical electrophoresis cell Pascali, Vincenzo Lorenzo; Pescarmona, M.; Dobosz, Marina; D'Aloja, Ernesto
1-gen-2008 Elements of morphology: standard terminology for the head and face Allanson, Je; Cunniff, C; Hoyme, He; Muenke, M; Neri, Giovanni
1-gen-2008 Epigenetic analysis reveals a euchromatic configuration in the FMR1 unmethylated full mutations. Tabolacci, Elisabetta; Moscato, Umberto; Zalfa, F; Bagni, C; Chiurazzi, Pietro; Neri, Giovanni
1-gen-1992 Errors in sizing bands of hypervariable DNA profiles on autoradiograms: Are they Gaussian? Pascali, Vincenzo Lorenzo; Moscetti, A.; Dobosz, Marina; Pescarmona, M.; D'Aloja, Ernesto
1-gen-2021 ESHG warns against misuses of genetic tests and biobanks for discrimination purposes Forzano, F; Genuardi, Maurizio; Yves, Moreau
1-gen-1991 Estimating allele frequencies of hypervariable DNA systems Pascali, Vincenzo Lorenzo; D'Aloja, Ernesto; Dobosz, Marina; Pescarmona, M.
1-gen-1999 Estimating European admixture in African Americans by using microsatellites and a microsatellite haplotype (CD4/Alu) Destro Bisol, G; Maviglia, R; Caglià, A; Boschi, Ilaria; Spedini, G; Pascali, Vincenzo Lorenzo; Clark, A; Tishkoff, S. B.
1-gen-2022 European experts consensus: BRCA/homologous recombination deficiency testing in first-line ovarian cancer I Vergote, 1; A González-Martín, 2; I Ray-Coquard, 3; P Harter, 4; N Colombo, 5; P Pujol, 6; D Lorusso, 7; M R Mirza, 8; B Brasiuniene, 9; R Madry, 10; J, D Brenton 11; M G E, M Ausems 12; R Büttner, 13; D Lambrechts, 14; Genuardi, Maurizio; European experts’ consensus, Group
1-gen-2022 Experience of a 2-year spinal muscular atrophy NBS pilot study in Italy: towards specific guidelines and standard operating procedures for the molecular diagnosis Abiusi, Emanuela; Vaisfeld, Alessandro; Fiori, Simona; Novelli, A; Spartano, Serena; Faggiano, Maria Vittoria; Giovanniello, T; Angeloni, A; Vento, Giovanni; Santoloci, Roberta; Gigli, Francesca; D'Amico, A; Costa, S; Porzi, A; Panella, M; Ticci, C; Daniotti, M; Sacchini, M; Boschi, I; Bertini, Enrico Silvio; Lanzone, Antonio; Lamarca, G; Genuardi, Maurizio; Pane, Marika; Donati, Ma; Mercuri, Eugenio Maria; Tiziano, Francesco Danilo
1-gen-2008 Exploring mitochondrial DNA variation in the Italian Peninsula Brisighelli, Francesca; Álvarez Iglesias, V.; Capelli, Cristian; Scarnicci, Francesca; Boschi, Ilaria; Luiselli, D.; Garagnani, P.; Carracedo, A.; Salas, A.; Pascali, Vincenzo Lorenzo
1-gen-2012 Fabry disease: polymorphic haplotypes and a novel missense mutation in the GLA gene Ferri, L; Guido, C; La Marca, G; Malvagia, S; Cavicchi, C; Fiumara, A; Barone, R; Parini, R; Antuzzi, D; Feliciani, C; Zampetti, A; Manna, Raffaele; Giglio, S; Della Valle, Cm; Wu, X; Valenzano, Kj; Benjamin, R; Donati, Ma; Guerrini, R; Genuardi, Maurizio; Morrone, A.
1-gen-2000 Field-amplified sample stacking capillary zone electrophoresis applied to the analysis of opiate drugs in hair Manetto, G; Tagliaro, F; Crivellente, F; Pascali, Vincenzo Lorenzo; Marigo, M.
1-gen-1989 First experience of individual fingerprints with human alpha globin 3'HVR probe Fiori, Angelo; Pascali, Vincenzo Lorenzo; D'Aloja, Ernesto; Dobosz, Marina; Destro Bisol, G.
1-gen-1995 Fluorescence-based classification of microsatellites using a single-wavelength semiautomatic sequencer: Genotype assignment and identity tests by analysis of comigrating peak profiles Moscetti, A.; Boschi, M.; Dobosz, Marina; Destro Bisol, G.; Pecarmona, M.; D'Aloja, Ernesto; Pascali, Vincenzo Lorenzo
1-gen-1992 Forensic use of PCR in Italy Fiori, Angelo; Pascali, Vincenzo Lorenzo
1-gen-2022 FUS mutations dominate TBK1 mutations in FUS/TBK1 double-mutant ALS/FTD pedigrees Brenner, D.; Muller, K.; Lattante, Serena; Yilmaz, R.; Knehr, A.; Freischmidt, A.; Ludolph, A. C.; Andersen, P. M.; Weishaupt, J. H.
Mostrati risultati da 50 a 69 di 167
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