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Expanding CEP290 mutational spectrum in ciliopathies.
Travaglini, Lorena; Brancati, Francesco; Attie-Bitach, Tania; Audollent, Sophie; Bertini, Enrico; Kaplan, Josseline; Perrault, Isabelle; Iannicelli, Miriam; Mancuso, Brunella; Rigoli, Luciana; Rozet, Jean-Michel; Swistun, Dominika; Tolentino, Jerlyn; Dallapiccola, Bruno; Gleeson, Joseph G; Valente, Enza Maria; Zankl, A; Leventer, R; Grattan-Smith, P; Janecke, A; D'Hooghe, M; Sznajer, Y; Van Coster, R; Demerleir, L; Dias, K; Moco, C; Moreira, A; Kim, C Ae; Maegawa, G; Petkovic, D; Abdel-Salam, G M H; Abdel-Aleem, A; Zaki, M S; Marti, I; Quijano-Roy, S; Sigaudy, S; de Lonlay, P; Romano, S; Touraine, R; Koenig, M; Lagier-Tourenne, C; Messer, J; Collignon, P; Wolf, N; Philippi, H; Kitsiou Tzeli, S; Halldorsson, S; Johannsdottir, J; Ludvigsson, P; Phadke, S R.
Affiliation
  • Travaglini L; CSS-Mendel Institute, Casa Sollievo della Sofferenza Hospital, Rome, Italy.
Am J Med Genet A ; 149A(10): 2173-80, 2009 Oct.
Article in En | MEDLINE | ID: mdl-19764032
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Abnormalities, Multiple / Cilia / Antigens, Neoplasm / Neoplasm Proteins Limits: Female / Humans Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2009 Document type: Article Affiliation country: Italy Country of publication: United States
Fulltext
Add to My VHL
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Abnormalities, Multiple / Cilia / Antigens, Neoplasm / Neoplasm Proteins Limits: Female / Humans Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2009 Document type: Article Affiliation country: Italy Country of publication: United States