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Cureus
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April 3, 2023
BRAT1 Mutation Retrospective Diagnosis: A Case Report
Fabiana Vercellino, Massimo Valerio, Maria Pia Dusio, et al.
Italian Journal of Pediatrics
|
June 13, 2021
Symptomatic eating epilepsy: two novel pediatric patients and review of literature
Fabiana Vercellino, Laura Siri, Giacomo Brisca, et al.
Molecular Genetics & Genomic Medicine
|
February 7, 2025
Novel De Novo RALA Missense Variants Expand the Genotype Spectrum of Hiatt-Neu-Cooper Neurodevelopmental Syndrome
Alice Dainelli, Mohammad Sadegh Shams Nosrati, Ferruccio Romano, et al.
Journal of Child Neurology
|
August 14, 2023
Acquired Demyelinating Syndromes of the Central Nervous System in Children: The Importance of Regular Follow-up in the First Year After Onset
Carlotta Canavese, Irene Favole, Rossella D'Alessandro, et al.
Frontiers in Genetics
|
August 29, 2022
The Usefulness of a Targeted Next Generation Sequencing Gene Panel in Providing Molecular Diagnosis to Patients With a Broad Spectrum of Neurodevelopmental Disorders
Simona Mellone, Chiara Puricelli, Denise Vurchio, et al.
Neuropediatrics
|
October 6, 2023
Electroclinical Features of Epilepsy in Kleefstra Syndrome
Thea Giacomini, Ramona Cordani, Irene Bagnasco, et al.
Italian Journal of Pediatrics
|
July 8, 2020
Targeted re-sequencing for early diagnosis of genetic causes of childhood epilepsy: the Italian experience from the 'beyond epilepsy' project
Elisabetta Amadori, Marcello Scala, Giulia Sofia Cereda, et al.
Neurology
|
January 4, 2023
Clinical and Neurophysiologic Phenotypes in Neonates With <i>BRAT1</i> Encephalopathy
Evelina Carapancea, Marie-Coralie Cornet, Mathieu Milh, et al.
Biomolecules
|
October 29, 2025
Landscape Analysis of <i>COL6A1</i>, <i>COL6A2</i>, and <i>COL6A3</i> Pathogenic Variants in a Large Italian Cohort Presenting with Collagen VI-Related Myopathies: A Nationwide Report
Fernanda Fortunato, Laura Fiocco, Alice Margutti, et al.
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Search research articles
Search
Showing results (1-10 of 9) with videos related to
Sort By:
Page
of 1
Cureus
|
April 3, 2023
BRAT1 Mutation Retrospective Diagnosis: A Case Report
Fabiana Vercellino, Massimo Valerio, Maria Pia Dusio, et al.
Italian Journal of Pediatrics
|
June 13, 2021
Symptomatic eating epilepsy: two novel pediatric patients and review of literature
Fabiana Vercellino, Laura Siri, Giacomo Brisca, et al.
Molecular Genetics & Genomic Medicine
|
February 7, 2025
Novel De Novo RALA Missense Variants Expand the Genotype Spectrum of Hiatt-Neu-Cooper Neurodevelopmental Syndrome
Alice Dainelli, Mohammad Sadegh Shams Nosrati, Ferruccio Romano, et al.
Journal of Child Neurology
|
August 14, 2023
Acquired Demyelinating Syndromes of the Central Nervous System in Children: The Importance of Regular Follow-up in the First Year After Onset
Carlotta Canavese, Irene Favole, Rossella D'Alessandro, et al.
Frontiers in Genetics
|
August 29, 2022
The Usefulness of a Targeted Next Generation Sequencing Gene Panel in Providing Molecular Diagnosis to Patients With a Broad Spectrum of Neurodevelopmental Disorders
Simona Mellone, Chiara Puricelli, Denise Vurchio, et al.
Neuropediatrics
|
October 6, 2023
Electroclinical Features of Epilepsy in Kleefstra Syndrome
Thea Giacomini, Ramona Cordani, Irene Bagnasco, et al.
Italian Journal of Pediatrics
|
July 8, 2020
Targeted re-sequencing for early diagnosis of genetic causes of childhood epilepsy: the Italian experience from the 'beyond epilepsy' project
Elisabetta Amadori, Marcello Scala, Giulia Sofia Cereda, et al.
Neurology
|
January 4, 2023
Clinical and Neurophysiologic Phenotypes in Neonates With <i>BRAT1</i> Encephalopathy
Evelina Carapancea, Marie-Coralie Cornet, Mathieu Milh, et al.
Biomolecules
|
October 29, 2025
Landscape Analysis of <i>COL6A1</i>, <i>COL6A2</i>, and <i>COL6A3</i> Pathogenic Variants in a Large Italian Cohort Presenting with Collagen VI-Related Myopathies: A Nationwide Report
Fernanda Fortunato, Laura Fiocco, Alice Margutti, et al.
Page
of 1