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Genetic testing and counselling in Europe: health professionals current educational provision, needs assessment and potential strategies for the future 1-gen-2007 Coviello, Domenico; Skirton, H; Ceratto, N; Lewis, C; Kent, A.
An assessment of written patient information provided at the genetic clinic and relating to genetic testing in seven European countries 1-gen-2007 Lewis, C; Mehta, P; Kent, A; Skirton, H; Coviello, Domenico
R990G polymorphism of calcium-sensing receptor does produce a gain-of-function and predispose to primary hypercalciuria 1-gen-2007 Vezzoli, G; Terranegra, A; Arcidiacono, T; Biasion, R; Coviello, Domenico; Syren, Ml; Paloschi, V; Giannini, S; Mignogna, G; Rubinacci, A; Ferraretto, A; Cusi, D; Bianchi, G; Soldati, L.
Molecular characterization and structural implications of 25 new ABCB4 mutations in progressive familial intrahepatic cholestasis type 3 (PFIC3) 1-gen-2007 Colombo, C; Seia, M; Porcaro, L; Costantino, L; Zazzeron, L; Bordo, D; Coviello, Domenico
A new de novo missense mutation in connexin 26 in a sporadic case of nonsyndromic deafness 1-gen-2007 Primignani, P; Trotta, L; Castorina, P; Lalatta, F; Cuda, D; Murri, A; Ambrosetti, U; Cesarani, A; Curcio, C; Coviello, Domenico; Travi, M.
Molecular and clinical features associated with CFTR gene rearrangements in Italian population: identification of a new duplication and recurrent deletions 1-gen-2008 Paracchini, V; Seia, M; Coviello, Domenico; Porcaro, L; Costantino, L; Capasso, P; Padoan, R; Corbetta, C; Claut, L; Costantini, D; Colombo, C.
Banking together. A unified model of informed consent for biobanking. 1-gen-2008 Salvaterra, E; Lecchi, L; Giovanelli, S; Butti, B; Bardella, Mt; Bertazzi, Pa; Bosari, S; Coggi, G; Coviello, Domenico; Lalatta, F; Moggio, M; Nosotti, M; Zanella, A; Rebulla, P.
Parkin analysis in early onset Parkinson's disease 1-gen-2008 Sironi, F; Primignani, P; Zini, M; Tunesi, S; Ruffmann, C; Ricca, S; Brambilla, T; Antonini, A; Tesei, S; Canesi, M; Zecchinelli, A; Mariani, C; Meucci, N; Sacilotto, G; Cilia, R; Isaias, Iu; Garavaglia, B; Ghezzi, D; Travi, M; Decarli, A; Coviello, Domenico; Pezzoli, G; Goldwurm, S.
Patenting and licensing in genetic testing: recommendations of the European Society of Human Genetics. 1-gen-2008 Aymé, S; Matthijs, G; Soini, S; Coviello, Domenico; ESHG Working Party on, Patenting; Licensing,
Establishment and characterization of 4 new human pancreatic cancer cell lines: evidences of different tumor phenotypes 1-gen-2009 Chifenti, B; Morelli, M; Zavaglia, M; Coviello, Domenico; Guerneri, S; Santucci, A; Paffetti, A; Masetti, M; Locci, Mt; Bertacca, G; Capodanno, A; Collecchi, P; Campani, D; Mosca, F; Bevilacqua, G; Cavazzana, Ao
An MBL2 haplotype and ABCB4 variants modulate the risk of liver disease in cystic fibrosis patients: a multicentre study. 1-gen-2009 Tomaiuolo, R; Coviello, Domenico; Baccarelli, A; Elce, A; Raia, V; Motta, V; Seia, M; Castaldo, G; Colombo, C.
Analysis of the GJB2 and GJB6 genes in Italian patients with nonsyndromic hearing loss: frequencies, novel mutations, genotypes, and degree of hearing loss 1-gen-2009 Primignani, P; Trotta, L; Castorina, P; Lalatta, F; Sironi, F; Radaelli, C; Curcio, C; Travi, M; Ambrosetti, U; Cesarani, A; Garavelli, L; Formigoni, P; Milani, D; Murri, A; Cuda, D; Coviello, Domenico
EuroGentest patient information leaflets: a free resource available in over 20 languages 1-gen-2009 Lewis, C; Kent, A; Skirton, H; Coviello, Domenico
A new splicing site mutation of the ABCB4 gene in intrahepatic cholestasis of pregnancy with raised serum gamma-GT 1-gen-2009 Tavian, D; Roncaglia, N; Vergani, P; Cameroni, I; Colombo, R; Coviello, Domenico
De novo balanced chromosome rearrangements in prenatal diagnosis 1-gen-2009 Giardino, D; Corti, C; Ballarati, L; Colombo, D; Sala, E; Villa, N; Piombo, G; Pierluigi, M; Faravelli, F; Guerneri, S; Coviello, Domenico; Lalatta, F; Cavallari, U; Bellotti, D; Barlati, S; Croci, G; Franchi, F; Savin, E; Nocera, G; Amico, Fp; Granata, P; Casalone, R; Nutini, L; Lisi, E; Torricelli, F; Giussani, U; Facchinetti, B; Guanti, G; DI GIACOMO, M; Susca, Fp; Pecile, V; Romitti, L; Cardarelli, L; Racalbuto, E; Police, Ma; Chiodo, F; Rodeschini, O; Falcone, P; Donti, E; Grimoldi, Mg; Martinoli, E; Stioui, S; Caufin, D; Lauricella, Sa; Tanzariello, Sa; Voglino, G; Lenzini, E; Besozzi, M; Larizza, L; Dalprà, L.
Borderline sweat test: Utility and limits of genetic analysis for the diagnosis of cystic fibrosis 1-gen-2009 Seia, M; Costantino, L; Paracchini, V; Porcaro, L; Capasso, P; Coviello, Domenico; Corbetta, C; Torresani, E; Magazzù, D; Consalvo, V; Monti, A; Costantini, D; Colombo, C.
Mutational screening and zebrafish functional analysis of GIGYF2 as a Parkinson-disease gene 1-gen-2010 Guella, I; Pistocchi, A; Asselta, R; Rimoldi, V; Ghilardi, A; Sironi, F; Trotta, L; Primignani, P; Zini, M; Zecchinelli, A; Coviello, Domenico; Pezzoli, G; DEL GIACCO, L; Duga, S; Goldwurm, S.
alpha-Synuclein multiplication analysis in Italian familial Parkinson disease 1-gen-2010 Sironi, F; Trotta, L; Antonini, A; Zini, M; Ciccone, R; DELLA MINA, E; Meucci, N; Sacilotto, G; Primignani, P; Brambilla, T; Coviello, Domenico; Pezzoli, G; Goldwurm, S.
Genetic education and the challenge of genomic medicine: development of core competences to support preparation of health professionals in Europe 1-gen-2010 Skirton, H; Lewis, C; Kent, A; Coviello, Domenico
A novel donor splice site characterized by CFTR mRNA analysis induces a new pseudo-exon in CF patients. 1-gen-2010 Costantino, L; Claut, L; Paracchini, V; Coviello, Domenico; Colombo, C; Porcaro, L; Capasso, P; Zanardelli, M; Pizzamiglio, G; Seia, M.
Mostrati risultati da 21 a 40 di 84
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