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Publications by Giuseppina Di Fruscio

Mutations in the PCYT1A Gene Are Responsible for Isolated Forms of Retinal Dystrophy

European Journal of Human Genetics

English

Clinical and Genetic Evaluation of a Cohort of Pediatric Patients With Severe Inherited Retinal Dystrophies

English

Related publications

Identifying Mutations in Tunisian Families With Retinal Dystrophy

Scientific Reports

Multidisciplinary

English

Two Novel Nonsense Mutations in GALNT3 Gene Are Responsible for Familial Tumoral Calcinosis

Journal of Human Genetics

English

Mutations in the UBIAD1 Gene, Encoding a Potential Prenyltransferase, Are Causal for Schnyder Crystalline Corneal Dystrophy

Multidisciplinary

English

Mutations in SCARF2 Are Responsible for Van Den Ende-Gupta Syndrome

American Journal of Human Genetics

English

Mutations of the FHL1 Gene Cause Emery-Dreifuss Muscular Dystrophy

American Journal of Human Genetics

English

Clinical Course of Cone Dystrophy Caused by Mutations in the RPGR Gene

Graefe's Archive for Clinical and Experimental Ophthalmology

Molecular Neuroscience

Sensory Systems

English

Integrin Alpha 8 Recessive Mutations Are Responsible for Bilateral Renal Agenesis in Humans

American Journal of Human Genetics

English

Hereditary Retinal Dystrophy

English

OPA3 Gene Mutations Responsible for Autosomal Dominant Optic Atrophy and Cataract

Journal of Medical Genetics

English