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List of works by Sabrina Signorini

CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders

scientific article

Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients

scientific article published on September 2007

Cognitive, adaptive, and behavioral features in Joubert syndrome

scientific article published on 17 August 2016

Erratum to: Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation

scientific article published on 12 September 2017

MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement

scientific article

Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome

scientific article (publication date: June 2006)

Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?

scientific article

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

scientific article published on 06 February 2013

Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation

scientific article

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