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List of works by Sara Nuovo

Age and sex prevalence estimate of Joubert syndrome in Italy

scientific article published on 22 January 2020

Between SCA5 and SCAR14: delineation of the SPTBN2 p.R480W-associated phenotype

scientific article published on 25 May 2018

Characterization of endocrine features and genotype-phenotypes correlations in blepharophimosis-ptosis-epicanthus inversus syndrome type 1.

scientific article published on 23 June 2015

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

scientific article published on 12 September 2017

Genetics of cerebellar disorders

scientific article published on 01 January 2018

Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects.

scientific article published on 27 September 2017

Impaired urinary concentration ability is a sensitive predictor of renal disease progression in Joubert syndrome

scientific article published on 06 November 2018

Movement disorders and brain iron overload in a new subtype of aceruloplasminemia.

scientific article published on 19 March 2015

Targeted Next Generation Sequencing in patients with Myotonia Congenita.

scientific article published on 17 April 2017

The spectrum of brainstem malformations associated to mutations of the tubulin genes family: MRI and DTI analysis

scientific article published on 31 July 2018

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

scientific article

Two unique TUBB3 mutations cause both CFEOM3 and malformations of cortical development.

scientific article published on 6 December 2015

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