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Pietro Chiurazzi

Catholic University of the Sacred Heart
The Catholic University of America

116

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3310

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USH2A-Related Retinitis Pigmentosa: Staging of Disease Severity and Morpho-Functional Studies

2021
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Deep brain stimulation in Fragile X syndrome with tardive dystonia.

2021 Neurological Sciences
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Hereditäre Netzhautdystrophien aufgrund von RPE65-Varianten: Von der genetischen Diagnostik zur Therapie

2021
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Inherited Retinal Diseases Due to RPE65 Variants: From Genetic Diagnostic Management to Therapy.

2021 International Journal of Molecular Sciences
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Co-Occurrence of Fragile X Syndrome with a Second Genetic Condition: Three Independent Cases of Double Diagnosis

2021 Genes
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Variant Selection and Interpretation: An Example of Modified VarSome Classifier of ACMG Guidelines in the Diagnostic Setting

2021 Genes
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A next generation sequencing gene panel for use in the diagnosis of anorexia nervosa

2021 Eating and Weight Disorders-studies on Anorexia Bulimia and Obesity
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DNA Methylation, Mechanisms of FMR1 Inactivation and Therapeutic Perspectives for Fragile X Syndrome.

2021
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Neuroacanthocytosis Syndromes in an Italian Cohort: Clinical Spectrum, High Genetic Variability and Muscle Involvement.

2021 Genes
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Italian SARS-CoV-2 patients in intensive care: towards an identikit for subjects at risk?

2020 European Review for Medical and Pharmacological Sciences
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