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Claudia Cuccurullo

Showing results (11-20 of 15) with videos related to

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Clinical Genetics|May 16, 2023
Novel biallelic variants expand the phenotype of NAA20-related syndromeGianluca D'Onofrio, Claudia Cuccurullo, Silje Kathrine Larsen, et al.
Epilepsia|February 3, 2023
Perampanel as precision therapy in rare genetic epilepsiesAndreea Nissenkorn, Gerhard Kluger, Susanne Schubert-Bast, et al.
Epilepsia|December 13, 2023
Dissecting genetics of spectrum of epilepsies with eyelid myoclonia by exome sequencingAntonietta Coppola, S Krithika, Michele Iacomino, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 10, 2022
De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorderYoeri Sleyp, Irene Valenzuela, Andrea Accogli, et al.
Epilepsia|July 2, 2024
Clinical features and genotype-phenotype correlations in epilepsy patients with de novo DYNC1H1 variantsClaudia Cuccurullo, Emanuele Cerulli Irelli, Lorenzo Ugga, et al.
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Showing results (11-20 of 15) with videos related to

Sort By:
Pageof 2
You have reached the last page of results.This site can display upto 15 results.
Clinical Genetics|May 16, 2023
Novel biallelic variants expand the phenotype of NAA20-related syndromeGianluca D'Onofrio, Claudia Cuccurullo, Silje Kathrine Larsen, et al.
Epilepsia|February 3, 2023
Perampanel as precision therapy in rare genetic epilepsiesAndreea Nissenkorn, Gerhard Kluger, Susanne Schubert-Bast, et al.
Epilepsia|December 13, 2023
Dissecting genetics of spectrum of epilepsies with eyelid myoclonia by exome sequencingAntonietta Coppola, S Krithika, Michele Iacomino, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 10, 2022
De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorderYoeri Sleyp, Irene Valenzuela, Andrea Accogli, et al.
Epilepsia|July 2, 2024
Clinical features and genotype-phenotype correlations in epilepsy patients with de novo DYNC1H1 variantsClaudia Cuccurullo, Emanuele Cerulli Irelli, Lorenzo Ugga, et al.
Pageof 2