Stefano D'Arrigo - Translational Clinical Research Division, Carlo Besta Neurological Institute

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Papers共 151 篇Author StatisticsCo-AuthorSimilar Experts

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A Patient with a Small Deletion Affecting Only Exon 1-Intron 1 of the NXF5 Gene: Potential Evidence Supporting Its Role in Neurodevelopmental Disorders

Yessica Yesenia Tapia,Claudia Ciaccio, Merve Begüm Bacınoğlu,Stefano D'Arrigo, Francesca Luisa Sciacca

Genesno. 5 (2025)

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Monoallelic De Novo Variants in DDX17 Cause a Neurodevelopmental Disorder

BRAIN (2025)

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Phenotypic Spectrum and Natural History of Gillespie Syndrome. an Updated Literature Review with 2 New Cases

Claudia Ciaccio,Matilde Taddei,Chiara Pantaleoni,Marina Grisoli,Daniela Di Bella,Stefania Magri,Franco Taroni,Stefano D’Arrigo

CEREBELLUM (2024)

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Pathogenic Cryptic Variants Detectable Through Exome Data Reanalysis Significantly Increase the Diagnostic Yield in Joubert Syndrome

European journal of human genetics EJHGno. 1 (2024): 72-79

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Intranasal Dexmedetomidine Sedation for EEG in Children with Autism Spectrum Disorder

Arianna De Laurentiis,Chiara Pastori, Carmela Pinto,Stefano D'Arrigo,Margherita Estienne,Sara Bulgheroni, Giulia Battaglia,Marco Gemma

FRONTIERS IN PSYCHIATRY (2024)

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Looks Can Be Deceiving: Diagnostic Power of Exome Sequencing in Debunking 15q11.2 Copy Number Variations

Camilla Meossi,Alessia Carrer,Claudia Ciaccio,Laura Pezzoli,Lidia Pezzani, Rosa Maria Silipigni,Francesca L. Sciacca,Romano Tenconi,Silvia Esposito,Arianna De Laurentiis,Chiara Pantaleoni,Paola Marchisio,Federica Natacci,Stefano D'Arrigo,Maria Iascone,Donatella Milani

GENESno. 11 (2024)

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Altered Molecular and Cellular Mechanisms in KIF5A-associated Neurodegenerative or Neurodevelopmental Disorders

CELL DEATH & DISEASEno. 9 (2024)

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