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Titolo Data di pubblicazione Autore(i) File
DeltaF508 gene deletion in Cystic Fibrosis in Southern Europe 1-gen-1989 Estivill, X; Casals, T; Morral, N; Chillon, M; Bosch, A; Nunes, V; Gasparini, P; Savoia, A.; Pignatti, Pf; Novelli, G; Dallapiccola, B; Fernandez, E; Benitez, J; Williamson, R
Linkage disequilibrium for DNA haplotypes near the cystic fibrosis locus in two south European populations 1-gen-1989 Estivill, X.; Gasparini, Paolo; Novelli, G.; Casals, T.; Nunes, V.; Gallano, P.; Savoia, A.; Ruzzo, A.; Dallapiccola, B.; Pignatti, Pierfranco
Amplification of DNA from epithelial cells in urine 1-gen-1989 Gasparini, P; Savoia, A.; Pignatti, Pf; Dallapiccola, B; Novelli, G
Worldwide survey of the deltaF508 mutation-report from the Cystic Fibrosis Genetic Analysis Consortium 1-gen-1990 Savoia, A.; Italy, ; Komel, R; RAVNIK-GLAVAC, M UNIVERSITY OF LJUBLJANA; Yugoslavia,
DeltaF508 gene deletion and prenatal diagnosis of Cystic Fibrosis in Italian and Spanish families 1-gen-1990 Novelli, G; Sangiuolo, F; Dallapiccola, B; Gasparini, P; Savoia, A.; Pignatti, Pf; Fernandez, E; Benitez, J; Casals, T; Nunes, V; Manas, P; Estivill, X
Frequency distribution of the alleles of several variable number of tandem repeat DNA polymorfisms in the Italian population 1-gen-1990 Gasparini, P; Trabetti, E; Savoia, A.; Marigo, M; Pignatti, Pf
The cystic fibrosis gene is not likely to be involved in chronic obstructive pulmonary disease 1-gen-1990 Gasparini, Paolo; Savoia, A.; Luisetti, M.; Peona, V.; Pignatti, Pierfranco
The search for South European Cystic Fibrosis mutations: identifiaction of two new mutations, four variants and intronic sequences 1-gen-1991 Gasparini, P; Nunes, V; Savoia, A.; Dognini, M; Morral, M; Gaona, A; Bonizzato, A; Chillon, M; Sangiuolo, F; Novelli, G; Dallapiccola, B; Pignatti, Pf; Estivill, X
Haplotype analysis to determine the position of a mutation among closely linked DNA markers 1-gen-1993 Ramsay, M; Williamson, R; Estivill, X; Wainwright, Bj; Ho, M-F; Halford, S; Kere, J; Savilahti, E; DE LA CHAPELLE, A; Schwatz, M; Schwartz, M; Super, M; Farndon, P; Harding, C; Meredith, L; AL-JODOR, L; Ferec, C; Claustres, M; Casals, T; Nunes, V; Gasparini, P; Savoia, A.; Pignatti, Pf; Novelli, G; Gennarelli, M; Dallapiccola, B; Kalaydjieva, L; Scambler, Pj
EcoRI RFPLP in the Fanconi Anemia Complementing Group C Gene (FACC) 1-gen-1993 Gibson, Ra; Savoia, A.; Buchwald, M; Mathew, Cg
Genetic Mapping of the FACC Gene and Linkage Analysis in Fanconi Anaemia FamilIes 1-gen-1994 Gibson, R; Ford, D; S., Jansen; Savoia, A.; Havenga, C; Milner, Rd; DE RAVEL, Tj; Cohn, Rj; Ball, Se; Roberts, I; Llerena, Jc; Vorechovsky, I; Pearson, T; Birjandi, F; Hussein, Ss; MURER-ORLANDO, M; Easton, Df; Mathew, Cg
Phoshatase inhibitor activate normal and defective CFTR chloride channels 1-gen-1994 Becq, F; Jensen, Tj; Chang, X-B; Savoia, A.; Rommens, Jm; Tsui, L-C; Buchwald, M; Riordan, Jr; Hanrahan, Jw
Mitochondrial Myopathies 1-gen-1994 Zeviani, M.; Amati, P.; Savoia, A.
The characterization of the 5' region of the Fanconi Anemia Group C (FACC) gene 1-gen-1995 Savoia, A.; Centra, M; Ianzano, L; DE CILLIS, Gp; Zelante, L; Buchawald, M
Eterogeneità clinica e molecolare dell'anemia di Fanconi 1-gen-1995 Savoia, A.; Dallapiccola, B.
Localization of the Fanconi anemia complementation group A gene to chromosome 16q24.3 1-gen-1995 Pronk, Jc; Gibson, R; Savoia, A.; Wijker, M; Morgan, N; Melchionda, S; Ford, D; Temtamy, S; Ortega, Jj; Jansen, S; Havenga, C; Et, Al.
Identification of three novel mutations in the PIG-A gene in paroxysmal nocturnal hemoglobinuria (PNH) patients 1-gen-1996 Savoia, A.; Ianzano, L; Lunardi, C; DE SANDRE, G; Carotenuto, M; Musto, P; Zelante, L.
Positional cloning of the Fanconi anaemia group A gene 1-gen-1996 THE FANCONI ANAEMIA BREAST CANCER CONSORTIUM., GROUP A; APOSTOLOU ET, Al; Group, B; Ianzano, L; Savino, M; D'Apolito, M; Notarangelo, A; Memeo, E; Piemontese, Mr; Zelante, L; Savoia, A.; Group, C; Gibson, Ra; Group, D; LEVRAN ET, Al; Group, E; CLETON-JANSEN ET AL, Et; Group, F; DOGGETT ET, Al
Fanconi anemia complementation groups in Germany and The Netherlands 1-gen-1996 Joenje, H; FOR EUFAR EUROPEAN FANCONI ANEMIA RESEARCH GLUCKMAN, E; Moustacchi, E; SCHROEDER-KURTH, T; Hoehn, H; Digweed, M; Mathew, C; Savoia, A.; Arwert, F; Joenje, H; Westerveld, A; Zdzienicka, Mz
Expression cloning of a cDNA for the major Fanconi anemia gene, FAA 1-gen-1996 LO TEN FOE, J; Rooimans, Ma; BOSNOYAN-COLLINS, L; Alon, N; Wijker, M; Parker, L; Lightfoot, J; Carreau, M; Callen, Df; Savoia, A.; Cheng, Nc; VAN BERKEL, Cgm; Strunk, Mhp; Gille, Jjp; Pals, G; Kruyt, Fae; Pronk, Jc; Arwert, F; Buchwald, M; Joenje, H
Mostrati risultati da 1 a 20 di 160
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