RAFFAELLA MINARDI

IRCCS Istituto Delle Scienze Neurologiche di Bologna

Italy

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Articles (10)

Year:

2021

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2021

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2021

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2021

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2020

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2020

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2020

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2020

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2020

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2020

Collaborators (6)

Tarja Linnankivi

Helsinki University Hospital

FINLAND

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Lynette Sadleir

University of Otago

NEW ZEALAND

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Elmo Saarentaus

University of Helsinki

FINLAND

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Laura Licchetta

University of Bologna

ITALY

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Francesca Bisulli

University of Bologna

ITALY

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Seo-Kyung Chung

Associate Professor

University of Sydney

AUSTRALIA

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RAFFAELLA MINARDI

Research Interests

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Contact this professor

Articles (10)

Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals

Shared genetic basis between genetic generalized epilepsy and background electroencephalographic oscillations

Epilepsy in MT-ATP6 - related mils/NARP: correlation of elettroclinical features with heteroplasmy.

Epilepsy with auditory features: Contribution of known genes in 112 patients

Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects

Accurate Detection of Hot-Spot MTOR Somatic Mutations in Archival Surgical Specimens of Focal Cortical Dysplasia by Molecular Inversion Probes

Autosomal dominant lateral temporal lobe epilepsy associated with a novel reelin mutation.

Whole‐exome sequencing in adult patients with developmental and epileptic encephalopathy: it is never too late

Gene Panel Analysis in a Large Cohort of Patients With Autosomal Dominant Polycystic Kidney Disease Allows the Identification of 80 Potentially Causative Novel Variants and the Characterization of a Complex Genetic Architecture in a Subset of Families

Epilepsy with eyelid myoclonias and Sotos syndrome features in a patient with compound heterozygous missense variants in APC2 gene

Collaborators (6)

Tarja Linnankivi

Lynette Sadleir

Elmo Saarentaus

Laura Licchetta

Francesca Bisulli

Seo-Kyung Chung

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