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“Detection of two novel large deletions in SLC3A1 by semi-quantitative fluorescent multiplex PCR”
2000-01-01 Purroy, J; Bisceglia, L; Jaeken, J; Gasparini, Paolo; Palacin, M; Nunes, V.
“Diagnosis and management of hemochromatosis since the discovery of the HFE gene: a european experience”
2000-01-01 Robson, K; MERRYWEATHER CLARKE, A; Pointon, J; Shearman, J; Halsall, D; Kelly, A; Cox, T; Rosenberg, W; Howell, M; Eccles, D; Patch, C; Gasparini, Paolo
“Exclusion of ZIRTL as candidate gene of juvenile hemochromatosis and refinement of the critical interval on 1q21”
2000-01-01 Roetto, A; Alberti, F; Daraio, F; Cali, A; Cazzola, M; Totaro, A; Gasparini, Paolo; Camaschella, C.
“Familial Pseudohyperkalemia maps to the same locus as Dehydrated Hereditary Stomatocytosis (Hereditary Xerocytosis)”
1999-01-01 Iolascon, A; Stewart, Gw; Ajetunmobi, Jf; Perrotta, S; Delaunay, J; Carella, M; Zelante, L; Gasparini, Paolo
“GABA (gamma-amino-butyric acid) neurotransmission: identification and fine mapping of the human GABAB receptor gene”
1998-01-01 A., Grifa; A., Totaro; Rommens, J. M.; M., Carella; A., Roetto; L., Borgato; L., Zelante; Gasparini, Paolo
“Genetic analysis in Italian families with inflammatory bowel disease supports linkage to the IBD1 locus: a GISC study”
1999-01-01 Annese, V; Latiano, A; Bovio, P; Forabosco, P; Piepoli, A; Lombardi, G; Andreoli, A; Astegiano, M; Gionchetti, P; Riegler, G; Sturniolo, G; Gasparini, Paolo
“Genetic heterogeneity of congenital dyserythropoietic anemia type II”
1998-01-01 Iolascon, A; DE MATTIA, D; Perrotta, S; Carella, M; Gasparini, Paolo; LAMBERTENGHI DELILIERS, G.
“Genetic homogeneity of lysinuric protein intolerance”
1998-01-01 Lauteala, T; Mykkanen, J; Sperandeo, Mp; Gasparini, Paolo; Savontaus, Ml; Simell, O; Andria, G; Sebastio, G; Aula, P.
“Genomewide search for dehydrated hereditary stomatocytosis (hereditary xerocytosis): mapping of locus to chromosome 16 (16q23-qter)”
1998-01-01 Carella, M; Stewart, G; Ajetunmobi, Jf; Perrotta, S; Grootenboer, S; Tchernia, G; Delaunay, J; Totaro, A; Zelante, L; Gasparini, Paolo; Iolascon, A.
“Geographic distribution of CDA-II: did a founder effect operate in Southern Italy?”
2000-01-01 Iolascon, A; Servedio, V; Carbone, R; Totaro, A; Carella, M; Perrotta, S; Wickramasinghe, Sn; Delaunay, J; Heimpel, H; Gasparini, Paolo
Legenda icone
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- file disponibili sulla rete interna
- file disponibili agli utenti autorizzati
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- file sotto embargo
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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