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Clinical Genetics
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May 16, 2023
Novel biallelic variants expand the phenotype of NAA20-related syndrome
Gianluca D'Onofrio, Claudia Cuccurullo, Silje Kathrine Larsen, et al.
Epilepsia
|
February 3, 2023
Perampanel as precision therapy in rare genetic epilepsies
Andreea Nissenkorn, Gerhard Kluger, Susanne Schubert-Bast, et al.
Epilepsia
|
December 13, 2023
Dissecting genetics of spectrum of epilepsies with eyelid myoclonia by exome sequencing
Antonietta 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 disorder
Yoeri Sleyp, Irene Valenzuela, Andrea Accogli, et al.
Epilepsia
|
July 2, 2024
Clinical features and genotype-phenotype correlations in epilepsy patients with de novo DYNC1H1 variants
Claudia Cuccurullo, Emanuele Cerulli Irelli, Lorenzo Ugga, et al.
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of 2
Search research articles
Search
Showing results (11-20 of 15) with videos related to
Sort By:
Page
of 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 syndrome
Gianluca D'Onofrio, Claudia Cuccurullo, Silje Kathrine Larsen, et al.
Epilepsia
|
February 3, 2023
Perampanel as precision therapy in rare genetic epilepsies
Andreea Nissenkorn, Gerhard Kluger, Susanne Schubert-Bast, et al.
Epilepsia
|
December 13, 2023
Dissecting genetics of spectrum of epilepsies with eyelid myoclonia by exome sequencing
Antonietta 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 disorder
Yoeri Sleyp, Irene Valenzuela, Andrea Accogli, et al.
Epilepsia
|
July 2, 2024
Clinical features and genotype-phenotype correlations in epilepsy patients with de novo DYNC1H1 variants
Claudia Cuccurullo, Emanuele Cerulli Irelli, Lorenzo Ugga, et al.
Page
of 2