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Epilepsia|October 24, 2006
Familial occurrence of febrile seizures and epilepsy in severe myoclonic epilepsy of infancy (SMEI) patients with SCN1A mutationsMaria Margherita Mancardi, Pasquale Striano, Elena Gennaro, et al.
Epilepsia|July 11, 2006
Linkage analysis and disease models in benign familial infantile seizures: a study of 16 familiesPasquale Striano, Maria Luisa Lispi, Elena Gennaro, et al.
Epilepsia|March 27, 2007
Brain MRI findings in severe myoclonic epilepsy in infancy and genotype-phenotype correlationsPasquale Striano, Maria Margherita Mancardi, Roberta Biancheri, et al.
Cancers|April 30, 2021
Genotype-Phenotype Correlations in Neurofibromatosis Type 1: A Single-Center Cohort StudyMarcello Scala, Irene Schiavetti, Francesca Madia, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|July 12, 2020
Clinical spectrum and genotype-phenotype correlations in PRRT2 Italian patientsGanna Balagura, Antonella Riva, Francesca Marchese, et al.
Human Mutation|May 24, 2022
De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypesMarcello Scala, Nathalie Drouot, Suzanna C MacLennan, et al.
Epilepsia|February 6, 2019
No evidence for a BRD2 promoter hypermethylation in blood leukocytes of Europeans with juvenile myoclonic epilepsyHerbert Schulz, Ann-Kathrin Ruppert, Federico Zara, et al.
Seizure|June 23, 2020
Targeted re-sequencing in malformations of cortical development: genotype-phenotype correlationsAndrea Accogli, Mariasavina Severino, Antonella Riva, et al.
Neurology. Genetics|July 22, 2024
Expanding the Mutational Landscape and Clinical Phenotype of CHD2-Related EncephalopathyAngela Clara-Hwang, Stefani Stefani, Tracy Lau, et al.
Neurology. Genetics|March 4, 2021
Genotype-phenotype correlations in patients with de novo KCNQ2 pathogenic variantsFederica Malerba, Giulio Alberini, Ganna Balagura, et al.
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