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| Titolo | Pubblicato in | Anno |
|---|---|---|
| CACNA1G Causes Dominantly Inherited Myoclonus-Ataxia with Intellectual Disability: A Case Report | THE CEREBELLUM | 2024 |
| Neuroimaging in early-treated phenylketonuria patients and clinical outcome: A systematic review | MOLECULAR GENETICS AND METABOLISM | 2023 |
| Metabolic control and clinical outcome in adolescents with phenylketonuria | MOLECULAR GENETICS AND METABOLISM | 2023 |
| Missense PDSS1 mutations in CoenzymeQ10 synthesis cause optic atrophy and sensorineural deafness | ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY | 2020 |
| Neurodevelopmental Impairment As the Main Phenotypic Hallmark Associated with the Translocation t(7;10)(7p22.3;q26.11) | JOURNAL OF PEDIATRIC GENETICS | 2020 |
| Carotid plaque detection improves the predictve value of CHA2DS2-VASc score in patients with non-valvular atrial fibrilation. the ARAPACIS study | INTERNATIONAL JOURNAL OF CARDIOLOGY | 2017 |
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