Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders / Travaglini, L; Brancati, F; Silhavy, J; Iannicelli, M; Nickerson, E; Elkhartoufi, N; Scott, E; Spencer, E; Gabriel, S; Thomas, S; Ben Zeev, B; Bertini, E; Boltshauser, E; Chaouch, M; Cilio, Mr; de Jong, Mm; Kayserili, H; Ogur, G; Poretti, A; Signorini, S; Uziel, G; Zaki, Ms; Johnson, C; Atti? Bitach, T; Gleeson, Jg; Valente, Em; International JSRD Study, Group; DEL GIUDICE, Ennio. - In: EUROPEAN JOURNAL OF HUMAN GENETICS. - ISSN 1018-4813. - 21:(2013), pp. 1074-1078. [10.1038/ejhg.2012.305]

Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders.

DEL GIUDICE, ENNIO
2013

2013
Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders / Travaglini, L; Brancati, F; Silhavy, J; Iannicelli, M; Nickerson, E; Elkhartoufi, N; Scott, E; Spencer, E; Gabriel, S; Thomas, S; Ben Zeev, B; Bertini, E; Boltshauser, E; Chaouch, M; Cilio, Mr; de Jong, Mm; Kayserili, H; Ogur, G; Poretti, A; Signorini, S; Uziel, G; Zaki, Ms; Johnson, C; Atti? Bitach, T; Gleeson, Jg; Valente, Em; International JSRD Study, Group; DEL GIUDICE, Ennio. - In: EUROPEAN JOURNAL OF HUMAN GENETICS. - ISSN 1018-4813. - 21:(2013), pp. 1074-1078. [10.1038/ejhg.2012.305]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11588/571174
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