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Publications by Roberto Giorda

De Novo Unbalanced Translocations Have a Complex History/Aetiology

Human Genetics
Genetics
2018English

Mutations in SOX17 Are Associated With Congenital Anomalies of the Kidney and the Urinary Tract

Human Mutation
Genetics
2010English

Novel Epilepsy Phenotype Associated to a Known SCN8A Mutation

Seizure : the journal of the British Epilepsy Association
MedicineNeurology
2019English

Mild Epileptic Phenotype Associates With De Novo Eef1a2 Mutation: Case Report and Review

Brain and Development
Child HealthDevelopmental NeurosciencePerinatologyNeurologyMedicinePediatrics
2020English

Long-Term Follow-Up of a Patient With 5q31.3 Microdeletion Syndrome and the Smallest De Novo 5q31.2q31.3 Deletion Involving PURA

Molecular Cytogenetics
BiochemistryMolecular MedicineGeneticsMolecular Biology
2015English

A Family-Based Association Study Does Not Support DYX1C1 on 15q21.3 as a Candidate Gene in Developmental Dyslexia

European Journal of Human Genetics
Genetics
2005English

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