Sabrina Benedetti
Rovereto, 38068, Italy
Last Updated: 09/26/2026
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Found 11 publications
Molecular Epidemiology in 591 Italian Probands With Nonsyndromic Retinitis Pigmentosa and Usher Syndrome.
Journal: Investigative ophthalmology & visual science
Published: February 12, 2021
Genetic test for Mendelian fatigue and muscle weakness syndromes.
Journal: Acta bio-medica : Atenei Parmensis
Published: September 15, 2020
Recessive multiple epiphyseal dysplasia and Stargardt disease in two sisters.
Journal: Molecular genetics & genomic medicine
Published: May 18, 2020
Hypothyroidism and hyperthyroidism.
Journal: Acta bio-medica : Atenei Parmensis
Published: August 06, 2019
Increasing evidence of hereditary lymphedema caused by CELSR1 loss-of-function variants.
Journal: American journal of medical genetics. Part A
Published: November 21, 2018
Corrigendum to "Genotype-Phenotype Characterization of Novel Variants in Six Italian Patients with Familial Exudative Vitreoretinopathy".
Journal: Journal of ophthalmology
Published: September 14, 2017
Osteoporosis-pseudoglioma syndrome: Report of two cases and a manifesting carrier.
Journal: Ophthalmic genetics
Published: February 02, 2017
Design and Validation of a New MLPA-Based Assay for the Detection of RS1 Gene Deletions and Application in a Large Family with X-Linked Juvenile Retinoschisis.
Journal: Genetic testing and molecular biomarkers
Published: December 21, 2016
Showing 1-11 of 11
Last Updated: 09/26/2026