RicercaInizia una nuova ricerca
NOTA: è possibile cercare una corrispondenza esatta usando i doppi apici, ad es: "evoluzione della specie". Qualora si cerchi un identificativo, è consigliabile cercarlo in due modi differenti: tra apici con caratteri speciali es: "978-94-6366-274" oppure senza caratteri speciali solo come sequenza numerica: es 978946366274.
Conventional magnetic resonance imaging and diffusion tensor imaging studies in children with novel GPR56 mutations: further delineation of a cobblestone-like phenotype.
2013-01-01 Quattrocchi, Cc; Zanni, G; Napolitano, A; Longo, D; Cordelli, Dm; Barresi, S; Randisi, F; Valente, Enza Maria; Verdolotti, T; Genovese, E; Specchio, N; Vitiello, G; Spiegel, R; Bertini, E; Bernardi, B.
Dandy-Walker malformation and Wisconsin syndrome: novel cases add further insight into the genotype-phenotype correlations of 3q23q25 deletions.
2013-01-01 Ferraris, A; Bernardini, L; Sabolic Avramovska, V; Zanni, G; Loddo, S; Sukarova Angelovska, E; Parisi, V; Capalbo, A; Tumini, S; Travaglini, L; Mancini, F; Duma, F; Barresi, S; Novelli, A; Mercuri, E; Tarani, L; Italian CBCD Study, Group; Bertini, E; Dallapiccola, B; Valente, Enza Maria
Deep brain stimulation in Myoclonus-dystonia syndrome.
2004-01-01 Cif, L; Valente, Enza Maria; Hemm, S; Coubes, C; Vayssiere, N; Serrat, S; Di Giorgio, A; Coubes, P.
Defective temporal processing of sensory stimuli in DYT1 mutation carriers: a new endophenotype of dystonia?
2007-01-01 Fiorio, M; Gambarin, M; Valente, Enza Maria; Liberini, P; Loi, M; Cossu, G; Moretto, G; Bhatia, Kp; Defazio, G; Aglioti, Sm; Fiaschi, A; Tinazzi, M.
Defining SGCE phenotypic signature in myoclonus-dystonia: a reappraisal of genetic testing criteria.
2013-01-01 Carecchio, M; Magliozzi, M; Copetti, M; Ferraris, A; Bernardini, L; Bonetti, M; Defazio, G; Edwards, Mj; Torrente, I; Pellegrini, F; Comi, C; Bhatia, Kp; Valente, Enza Maria
Delineation and Diagnostic Criteria of Oral-Facial-Digital Syndrome Type VI.
2012-01-01 Poretti, A; Vitiello, G; Hennekam, Rcm; Arrigoni, F; Bertini, E; Borgatti, R; Brancati, F; D’Arrigo, S; Faravelli, F; Giordano, L; Huisman, Tagm; Iannicelli, M; Kluger, G; Kyllerman, M; Landgren, M; Lees, Mm; Pinelli, L; Romaniello, R; Scheer, I; Schwarz, Ce; Spiegel, R; Tibussek, D; Valente, Enza Maria; Boltshauser, E.
Description, nomenclature, and mapping of a novel cerebello-renal syndrome with the molar tooth malformation.
2003-01-01 Valente, Enza Maria; Salpietro, Dc; Brancati, F; Bertini, E; Galluccio, T; Tortorella, G; Briuglia, S; Dallapiccola, B.
Detailed haplotype analysis in Ashkenazi Jewish and non-Jewish British dystonic patients carrying the GAG deletion in the DYT1 gene: evidence for a limited number of founder mutations.
1999-01-01 Valente, Enza Maria; Povey, S; Warner, Tt; Wood, Nw; Davis, Mb
Diffusion tensor imaging in Joubert sindrome.
2007-01-01 Poretti, A; Boltshauser, E; Loenneker, T; Valente, Enza Maria; Brancati, F; Il’Yasov, K; Huisman, Tagm
Distinguishing the four genetic causes of Jouberts syndrome-related disorders.
2005-01-01 Valente, Enza Maria; Marsh, Se; Castori, M; Dixon Salazar, T; Bertini, E; Al Gazali, L; Messer, J; Barbot, C; Woods, Cg; Boltshauser, E; Al Tawari, Aa; Salpietro, Cd; Kayserili, H; Sztriha, L; Gribaa, M; Koenig, M; Dallapiccola, B; Gleeson, Jg
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Conventional magnetic resonance imaging and diffusion tensor imaging studies in children with novel GPR56 mutations: further delineation of a cobblestone-like phenotype. | 1-gen-2013 | Quattrocchi, Cc; Zanni, G; Napolitano, A; Longo, D; Cordelli, Dm; Barresi, S; Randisi, F; Valente, Enza Maria; Verdolotti, T; Genovese, E; Specchio, N; Vitiello, G; Spiegel, R; Bertini, E; Bernardi, B. | |
| Dandy-Walker malformation and Wisconsin syndrome: novel cases add further insight into the genotype-phenotype correlations of 3q23q25 deletions. | 1-gen-2013 | Ferraris, A; Bernardini, L; Sabolic Avramovska, V; Zanni, G; Loddo, S; Sukarova Angelovska, E; Parisi, V; Capalbo, A; Tumini, S; Travaglini, L; Mancini, F; Duma, F; Barresi, S; Novelli, A; Mercuri, E; Tarani, L; Italian CBCD Study, Group; Bertini, E; Dallapiccola, B; Valente, Enza Maria | |
| Deep brain stimulation in Myoclonus-dystonia syndrome. | 1-gen-2004 | Cif, L; Valente, Enza Maria; Hemm, S; Coubes, C; Vayssiere, N; Serrat, S; Di Giorgio, A; Coubes, P. | |
| Defective temporal processing of sensory stimuli in DYT1 mutation carriers: a new endophenotype of dystonia? | 1-gen-2007 | Fiorio, M; Gambarin, M; Valente, Enza Maria; Liberini, P; Loi, M; Cossu, G; Moretto, G; Bhatia, Kp; Defazio, G; Aglioti, Sm; Fiaschi, A; Tinazzi, M. | |
| Defining SGCE phenotypic signature in myoclonus-dystonia: a reappraisal of genetic testing criteria. | 1-gen-2013 | Carecchio, M; Magliozzi, M; Copetti, M; Ferraris, A; Bernardini, L; Bonetti, M; Defazio, G; Edwards, Mj; Torrente, I; Pellegrini, F; Comi, C; Bhatia, Kp; Valente, Enza Maria | |
| Delineation and Diagnostic Criteria of Oral-Facial-Digital Syndrome Type VI. | 1-gen-2012 | Poretti, A; Vitiello, G; Hennekam, Rcm; Arrigoni, F; Bertini, E; Borgatti, R; Brancati, F; D’Arrigo, S; Faravelli, F; Giordano, L; Huisman, Tagm; Iannicelli, M; Kluger, G; Kyllerman, M; Landgren, M; Lees, Mm; Pinelli, L; Romaniello, R; Scheer, I; Schwarz, Ce; Spiegel, R; Tibussek, D; Valente, Enza Maria; Boltshauser, E. | |
| Description, nomenclature, and mapping of a novel cerebello-renal syndrome with the molar tooth malformation. | 1-gen-2003 | Valente, Enza Maria; Salpietro, Dc; Brancati, F; Bertini, E; Galluccio, T; Tortorella, G; Briuglia, S; Dallapiccola, B. | |
| Detailed haplotype analysis in Ashkenazi Jewish and non-Jewish British dystonic patients carrying the GAG deletion in the DYT1 gene: evidence for a limited number of founder mutations. | 1-gen-1999 | Valente, Enza Maria; Povey, S; Warner, Tt; Wood, Nw; Davis, Mb | |
| Diffusion tensor imaging in Joubert sindrome. | 1-gen-2007 | Poretti, A; Boltshauser, E; Loenneker, T; Valente, Enza Maria; Brancati, F; Il’Yasov, K; Huisman, Tagm | |
| Distinguishing the four genetic causes of Jouberts syndrome-related disorders. | 1-gen-2005 | Valente, Enza Maria; Marsh, Se; Castori, M; Dixon Salazar, T; Bertini, E; Al Gazali, L; Messer, J; Barbot, C; Woods, Cg; Boltshauser, E; Al Tawari, Aa; Salpietro, Cd; Kayserili, H; Sztriha, L; Gribaa, M; Koenig, M; Dallapiccola, B; Gleeson, Jg |
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 su Rivista 162
- 1 Contributo su Rivista::1.1.2 Ar... 162
Data di pubblicazione
- 2010 - 2015 68
- 2000 - 2009 82
- 1996 - 1999 12
Rivista
- MOVEMENT DISORDERS 32
- ANNALS OF NEUROLOGY 10
- HUMAN MUTATION 9
- NEUROLOGY 8
- AMERICAN JOURNAL OF HUMAN GENETICS 7
- JOURNAL OF NEUROLOGY, NEUROSURGER... 6
- NATURE GENETICS 6
- ORPHANET JOURNAL OF RARE DISEASES 5
- EUROPEAN JOURNAL OF HUMAN GENETICS 4
- JOURNAL OF MEDICAL GENETICS 4
Keyword
- Humans 4
- Female 3
- Male 3
- Mutation 3
- Cerebellar Diseases 2
- Cystic 2
- Eye Abnormalities 2
- Kidney Diseases 2
- Phenotype 2
- Retina 2
Lingua
- eng 106
- und 44
- ita 2
Accesso al fulltext
- no fulltext 162