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Early intervention in visually impaired children 1-gen-2005 Fazzi, ELISA MARIA; Signorini Sabrina, Giovanna; Bova Stefania, Maria; Ondei, Paola; Bianchi, PAOLO EMILIO
Towards improved clinical characterization of Leber congenital amaurosis: neurological and systemic findings. 1-gen-2005 Fazzi, ELISA MARIA; Signorini, SABRINA GIOVANNA; Uggetti, C.; Bianchi, PAOLO EMILIO; Lanners, J.; Lanzi, Giovanni
Cognitive competence at the onset of West syndrome: correlation with EEG patterns and visual function 1-gen-2005 Randò, T; Baranello, G; Ricci, Davide; Guzzetta, A; Tinelli, F; Biagioni, E; La Torre, G; Epifanio, R; Signorini, S; Fazzi, ELISA MARIA; Mercuri, E; Cioni, G; Guzzetta, F.
Caractèristiques Neorophtalmologiques des Deficiences Visuelles d'Origine centrale liees aux malformations du developpement cortical. 1-gen-2006 Bova, Stefania; Fazzi, ELISA MARIA; Signorini, SABRINA GIOVANNA; Giovenzana, Alessia; LA PIANA, Roberta; Olivieri, Ivana; Uggetti, C.; Bianchi, PAOLO EMILIO
Changes in the optic disc excavation of children affected by cerebral visual impairment: a tomographic analysis 1-gen-2006 Fazzi, ELISA MARIA; Signorini, SABRINA GIOVANNA; Ruberto, G.; Salati, R.; Milano, G.; Bertone, Chiara; Tinelli, C.; Guagliano, R.; Borgatti, R.; Bianchi, Amalia; Bianchi, P. e.
Nephronophthisis type 1 deletion syndrome with neurological symptoms: prevalence and significance of the association 1-gen-2006 Caridi, G; Dagnino, M; Rossi, Alessia; Valente, ENZA MARIA; Bertini, E; Fazzi, ELISA MARIA; Emma, F; Murer, L; Verrina, E; Ghiggeri, Gm
A questionnaire on sleep behaviour in the first years of life: preliminary results from a normative sample 1-gen-2006 Fazzi, ELISA MARIA; Zaccagnino, M; Capsoni, C; Orcesi, S; Spada, G; Cavallini, Anna; Caffi, L; Bianchini, L; Montrasio, V; Zambonin, F.
Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection 1-gen-2006 Crow, Yj; Leitch, A; Hayward, Be; Garner, A; Parmar, R; Griffith, E; Ali, M; Semple, C; Aicardi, J; Babul Hirji, R; Baumann, C; Baxter, P; Bertini, E; Chandler, Ke; Chitayat, D; Cau, D; Déry, C; Fazzi, ELISA MARIA; Goizet, C; King, Md; Klepper, J; Lacombe, D; Lanzi, Giuseppe; Lyall, H; Martínez Frías, Ml; Mathieu, M; Mckeown, C; Monier, A; Oade, Y; Quarrell, Ow; Rittey, Cd; Rogers, Rc; Sanchis, A; Stephenson, Jb; Tacke, U; Till, M; Tolmie, Jl; Tomlin, P; Voit, T; Weschke, B; Woods, Cg; Lebon, P; Bonthron, Dt; Ponting, Cp; Jackson, Ap
Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome 1-gen-2006 Valente, Em; Silhavy, Jl; Brancati, F; Barrano, G; Krishnaswami, Sr; Castori, M; Lancaster, Ma; Boltshauser, E; Boccone, L; Al Gazali, L; Fazzi, ELISA MARIA; Signorini, S; Louie, Cm; Bellacchio, E; International Joubert Syndrome Related Disorders Study, Group; Bertini, E; Dallapiccola, B; Gleeson, Jg
Visual function recovery after early acquired occipital damage in a child: report of a case. 1-gen-2006 Bova, Stefania; Signorini, SABRINA GIOVANNA; Giovenzana, Alessia; LA PIANA, Roberta; Bianchi, PAOLO EMILIO; Fazzi, ELISA MARIA
Controlli longitudinali mediante Potenziali evocati visivi e acuità visiva soggettiva in bambini affetti da Cerebral Visual Impairment: efficacia della riabilitazione visiva 1-gen-2006 Pezzotta, Sara; Bertone, Chiara; Misefari, W; Signorini, SABRINA GIOVANNA; Antonini, M; Achille, C; Luparia, A; Fazzi, ELISA MARIA; Bianchi, PAOLO EMILIO; Ruberto, Giulio
Lo sviluppo della visione nell'età evolutiva. In 'Oftalmologia Pediatrica'Cap. 1 Benedetto Ricci 1-gen-2006 Bianchi, PAOLO EMILIO; Guagliano, Rosanna; Misefari, V.; Fazzi, ELISA MARIA; Salati, R.
Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome 1-gen-2006 Valente, ENZA MARIA; Silhavy, Jennifer L.; Brancati, Francesco; Barrano, Giuseppe; Krishnaswami, Suguna Rani; Castori, Marco; Lancaster, Madeline A.; Boltshauser, Eugen; Boccone, Loredana; Al Gazali, Lihadh; Fazzi, ELISA MARIA; Signorini, SABRINA GIOVANNA; Louie, Carrie M.; Bellacchio, Emanuele; Bertini, Enrico; Dallapiccola, Bruno; Gleeson, Joseph G.
Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior-Loken syndrome. 1-gen-2007 Helou, J; Otto, Ea; Attanasio, M; Allen, Sj; Parisi, Ma; Glass, I; Utsch, B; Hashmi, S; Fazzi, ELISA MARIA; Omran, H; O'Toole, Jf; Sayer, Ja; Hildebrandt, F.
Cognitive profiles and visuoperceptual abilities in preterm and term spastic diplegic children with periventricular leukomalacia. 1-gen-2007 Pagliano, E; Fedrizzi, E; Erbetta, A; Bulgheroni, S; Solari, A; Bono, R; Fazzi, ELISA MARIA; Andreucci, E; Riva, D.
Clinical and molecular phenotype of aicardi-goutieres syndrome. 1-gen-2007 Rice, G; Patrick, T; Parmar, R; Taylor, Cf; Aeby, A; Aicardi, J; Artuch, R; Montalto, Sa; Bacino, Ca; Barroso, B; Baxter, P; Benko, Ws; Bergmann, C; Bertini, E; Biancheri, R; Blair, Em; Blau, N; Bonthron, Dt; Briggs, T; Brueton, La; Brunner, Hg; Burke, Cj; Carr, Im; Carvalho, Dr; Chandler, Ke; Christen, Hj; Corry, Pc; Cowan, Fm; Cox, H; D'Arrigo, S; Dean, J; De Laet, C; De Praeter, C; Dery, C; Ferrie, Cd; Flintoff, K; Frints, Sg; Garcia Cazorla, A; Gener, B; Goizet, C; Goutieres, F; Green, Aj; Guet, A; Hamel, Bc; Hayward, Be; Heiberg, A; Hennekam, Rc; Husson, M; Jackson, Ap; Jayatunga, R; Jiang, Yh; Kant, Sg; Kao, A; King, Md; Kingston, Hm; Klepper, J; van der Knaap, Ms; Kornberg, Aj; Kotzot, D; Kratzer, W; Lacombe, D; Lagae, L; Landrieu, Pg; Lanzi, Giovanni; Leitch, A; Lim, Mj; Livingston, Jh; Lourenco, Cm; Lyall, Eg; Lynch, Sa; Lyons, Mj; Marom, D; Mcclure, Jp; Mcwilliam, R; Melancon, Sb; Mewasingh, Ld; Moutard, Ml; Nischal, Kk; Ostergaard, Jr; Prendiville, J; Rasmussen, M; Rogers, Rc; Roland, D; Rosser, Em; Rostasy, K; Roubertie, A; Sanchis, A; Schiffmann, R; Scholl Burgi, S; Seal, S; Shalev, Sa; Corcoles, Cs; Sinha, Gp; Soler, D; Spiegel, R; Stephenson, Jb; Tacke, U; Tan, Ty; Till, M; Tolmie, Jl; Tomlin, P; Vagnarelli, F; Valente, ENZA MARIA; Van Coster, Rn; Van der Aa, N; Vanderver, A; Vles, Js; Voit, T; Wassmer, E; Weschke, B; Whiteford, Ml; Willemsen, Ma; Zankl, A; Zuberi, Sm; Orcesi, S; Fazzi, ELISA MARIA; Lebon, P; Crow, Y. J.
Analysis of the correlation between three methods used in the assessment of children with cerebral palsy. 1-gen-2007 Romei, M; Galli, M; Fazzi, ELISA MARIA; Maraucci, I; Schwartz, M; Uggetti, C; Crivellini, M.
CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders. 1-gen-2007 Brancati, F; Barrano, G; Silhavy, Jl; Marsh, Se; Travaglini, L; Bielas, Sl; Amorini, M; Zablocka, D; Kayserili, H; AL GAZALI, L; Bertini, E; Boltshauser, E; D'Hooghe, M; Fazzi, ELISA MARIA; Fenerci, Ey; Hennekam, Rc; Kiss, A; Lees, Mm; Marco, E; Phadke, Sr; Rigoli, L; Romano, S; Salpietro, Cd; Sherr, Eh; Signorini, S; Stromme, P; Stuart, B; Sztriha, L; Viskochil, Dh; Yuksel, A; Dallapiccola, B; INTERNATIONAL JSRD STUDY, Group; Valente, ENZA MARIA; Gleeson, Jg
Ciguatera poisoning in early pregnancy and severe visual impairment in the child: a case report. 1-gen-2007 Butera, R; Eleftheriou, J; Signorini, S; Versino, Maurizio; Fazzi, ELISA MARIA; Farina, Ml; Manzo, Luigi
Sequele oftalmologiche nel bambino nato pretermine - XX Convegno S.I.N. 1-gen-2007 Bianchi, PAOLO EMILIO; Bertone, Chiara; Barilla', DONATELLA SANTA; Guagliano, Rosanna; Ruberto, Giulio; Signorini, SABRINA GIOVANNA; Fazzi, ELISA MARIA
Mostrati risultati da 21 a 40 di 113
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