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“Heterogeneity of hemochromatosis in Italy”
1998-01-01 Piperno, A; Sampietro, M; Pietrangelo, A; Arosio, C; Lupica, L; Montosi, G; Vergani, A; Fraquelli, M; Girelli, D; Pasquero, P; Roetto, A; Gasparini, Paolo
“Identification of LMX1B gene point mutations in italian patients affected with nail-patella syndrome”
1999-01-01 Seri, M; Melchionda, S; Dreyer, S; Marini, M; Carella, M; Cusano, R; Piemontese, Mr; Caroli, F; Silengo, M; Zelante, L; Romeo, G; Gasparini, Paolo
“Leigh syndrome transmitted by uniparental disomy of chromosome 9”
1999-01-01 Tiranti, V; Lamantea, F; Uziel, G; Zeviani, M; Gasparini, Paolo; Marzella, R; Rocchi, M; Fried, M.
“Myocilin Gln368stop mutation and advanced age as risk factors for late-onset primary open-angle glaucoma”
2000-01-01 Angius, A; Spinelli, P; Ghilotti, G; Casu, G; Sole, G; Loi, A; Totaro, A; Zelante, L; Gasparini, Paolo; Orzalesi, N; Pirastu, M; Bonomi, L.
“New mutations inactivating transferrin receptor 2 in hemochromatosis type 3”
2001-01-01 Roetto, A; Totaro, A; Piperno, A; Piga, A; Longo, F; Garozzo, G; Cali, A; DE GOBBI, M; Gasparini, Paolo; Camaschella, C.
“Osteoporosis in beta-thalassaemia major patients: analysis of the genetic background”
2000-01-01 Perrotta, S; Cappellini, Md; Bertoldo, F; Servedio, V; Iolascon, G; D'Agruma, L; Gasparini, Paolo; Siciliani, Mc; Iolascon, A.
“Pleiotropic syndrome of dehydrated hereditary stomatocytosis, pseudohyperkalemia, and perinatal edema maps to 16q23-q24”
2000-01-01 Grootenboer, S; Schischmanoff, Po; Laurendeau, I; Cynober, T; Tchernia, G; Dommergues, Jp; Dhermy, D; Bost, M; Varet, B; Snyder, M; Ballas, Sk; Gasparini, Paolo
“Polymorphism in intron 4 of HFE does not compromise haemochromatosis mutation results”
1999-01-01 THE EUROPEAN HAEMOCHROMATOSIS, Consortium; Gasparini, Paolo
“Recombinant families locate the gene for non-type I cystinuria between markers C13 and D19S587 on chromosome 19q13.1”
1999-01-01 Feliubadalo, L; Bisceglia, L; Font, M; DELLO STROLOGO, L; Beccia, E; ARSLAN KIRCHNER, M; Steinmann, B; Zelante, L; Estivill, X; Zorzano, A; Palacin, M; Gasparini, Paolo
“Reelin gene alleles and haplotypes as a factor predisposing to autistic disorder”
2001-01-01 Persico, Am; D'Agruma, L; Maiorano, N; Totaro, A; Militerni, R; Bravaccio, C; Wassink, Th; Schneider, C; Melmed, R; Trillo, S; Montecchi, F; Gasparini, Paolo
Legenda icone
- file ad accesso aperto
- file disponibili sulla rete interna
- file disponibili agli utenti autorizzati
- file disponibili solo agli amministratori
- file sotto embargo
- nessun file disponibile
Opzioni
Scopri
Tipologia
- 1 Contributo in Rivista(Articolo ... 464
- 1 Contributo in Rivista(Articolo ... 464
Data di pubblicazione
- 2020 - 2023 53
- 2010 - 2019 182
- 2000 - 2009 86
- 1990 - 1999 134
- 1987 - 1989 9
Editore
- Chichester : Wiley-Blackwell, 2009- 1
- KARGER 1
Rivista
- NATURE GENETICS 31
- EUROPEAN JOURNAL OF HUMAN GENETICS 30
- AMERICAN JOURNAL OF HUMAN GENETICS 25
- HUMAN GENETICS 18
- PLOS ONE 15
- HUMAN MOLECULAR GENETICS 14
- BLOOD 13
- HUMAN MUTATION 11
- MOLECULAR AND CELLULAR PROBES 10
- NATURE 10
Keyword
- Humans 61
- Genetics 34
- Female 31
- Male 31
- Genome-Wide Association Study 24
- Polymorphism 23
- Single Nucleotide 21
- GWAS 19
- Genetics (clinical) 18
- Adult 16
Lingua
- eng 259
- ita 2
- slv 1
Accesso al fulltext
- no fulltext 310
- open 78
- reserved 56
- partially open 20