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Mostrati risultati da 43 a 62 di 167
Data di pubblicazione Titolo Autore(i) File
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.
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
Mostrati risultati da 43 a 62 di 167
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