Showing 1 - 11 results of 11 for search 'Ilaria Cassano', query time: 0.08s
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Genotype–Phenotype Correlations in Relation to Newly Emerging Monogenic Forms of Autism Spectrum Disorder and Associated Neurodevelopmental Disorders: The Importance of Phenotype R... by Carla Lintas, Roberto Sacco, Alessia Azzarà, Ilaria Cassano, Fiorella Gurrieri
Published 2021-10-01
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Genetic Dysruption of the Histaminergic Pathways: A Novel Deletion at the 15q21.2 <i>locus</i> Associated with Variable Expressivity of Neuropsychiatric Disorders by Carla Lintas, Roberto Sacco, Alessia Azzarà, Ilaria Cassano, Luigi Laino, Paola Grammatico, Fiorella Gurrieri
Published 2022-09-01
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Deletion of a Single Lysine Residue at Position 292 of CAMK2A Disrupts Protein Function, Causing Severe Epileptic Encephalopathy and Intellectual Disability by Carla Lintas, Angelo Facchiano, Alessia Azzarà, Ilaria Cassano, Claudio Tabolacci, Cinzia Galasso, Fiorella Gurrieri
Published 2023-06-01
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Expanding the Spectrum of <i>KDM5C</i> Neurodevelopmental Disorder: A Novel De Novo Stop Variant in a Young Woman and Emerging Genotype–Phenotype Correlations by Carla Lintas, Irene Bottillo, Roberto Sacco, Alessia Azzarà, Ilaria Cassano, Maria Pia Ciccone, Paola Grammatico, Fiorella Gurrieri
Published 2022-12-01
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Genetic variants determine intrafamilial variability of SARS-CoV-2 clinical outcomes in 19 Italian families by Alessia Azzarà, Ilaria Cassano, Elisa Paccagnella, Maria Cristina Tirindelli, Carolina Nobile, Valentina Schittone, Carla Lintas, Roberto Sacco, Fiorella Gurrieri
Published 2022-01-01
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Identification by Exome Sequencing of Predisposing Variants in Familial Cases of Autoinflammatory Recurrent Fevers by Eugenio Sangiorgi, Alessia Azzarà, Roberto Rumore, Ilaria Cassano, Elena Verrecchia, Luciano Giacò, Maria Alessandra Tullio, Fiorella Gurrieri, Raffaele Manna
Published 2023-06-01
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Genetic variants determine intrafamilial variability of SARS-CoV-2 clinical outcomes in 19 Italian families. by Alessia Azzarà, Ilaria Cassano, Elisa Paccagnella, Maria Cristina Tirindelli, Carolina Nobile, Valentina Schittone, Carla Lintas, Roberto Sacco, Fiorella Gurrieri
Published 2022-01-01
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A pathogenic variant in the FLCN gene presenting with pure dementia: is autophagy at the intersection between neurodegeneration and cancer? by Irene Bottillo, Luigi Laino, Alessia Azzarà, Carla Lintas, Ilaria Cassano, Vincenzo Di Lazzaro, Vincenzo Di Lazzaro, Francesca Ursini, Francesco Motolese, Francesco Motolese, Simone Bargiacchi, Daniela Formicola, Paola Grammatico, Fiorella Gurrieri, Fiorella Gurrieri
Published 2024-01-01
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