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Orphanet Journal of Rare Diseases
|
April 3, 2026
AFG2A-related encephalopathy, expanding the neurodevelopmental and epileptic spectrum
Laia Nou-Fontanet, Gaetano Cantalupo, Frederik Braun, et al.
Medicina Clinica
|
November 7, 2009
[Cerebral creatine deficiency: first Spanish patients harbouring mutations in GAMT gene]
Angela Sempere, Carmen Fons, Angela Arias, et al.
Pediatric Neurology
|
January 15, 2022
Cerebrospinal Fluid Ion Analysis in Neonatal Seizures
Díadac Casas-Alba, Clara Oliva, María Del Carmen Salgado, et al.
Journal of Child Neurology
|
September 20, 2023
Methodology of a Natural History Study of a Rare Neurodevelopmental Disorder: Alternating Hemiplegia of Childhood as a Prototype Disease
Shital H Patel, Eleni Panagiotakaki, Maria T Papadopoulou, et al.
Journal of Human Genetics
|
August 19, 2016
Clinical and genetic features of 13 Spanish patients with KCNQ2 mutations
Montesclaros Hortigüela, Ana Fernández-Marmiesse, Verónica Cantarín, et al.
Clinical Biochemistry
|
September 11, 2007
Creatine transporter deficiency: prevalence among patients with mental retardation and pitfalls in metabolite screening
Angela Arias, Marc Corbella, Carmen Fons, et al.
Epilepsy & Behavior : E&B
|
November 29, 2025
The seen and unseen facets of Dravet syndrome across the disease trajectory: Insights from European ethnographic research
Liam Dorris, Luis Miguel Aras, Marion Danse, et al.
Movement Disorders Clinical Practice
|
November 20, 2023
Exploring the Spectrum of <i>RHOBTB2</i> Variants Associated with Developmental Encephalopathy 64: A Case Series and Literature Review
Sonia de Pedro Baena, Andrea Sariego Jamardo, Pedro Castro, et al.
Brain : a Journal of Neurology
|
October 27, 2010
Evidence of a non-progressive course of alternating hemiplegia of childhood: study of a large cohort of children and adults
Eleni Panagiotakaki, Giuseppe Gobbi, Brian Neville, et al.
International Journal of Molecular Sciences
|
March 13, 2024
MLe-KCNQ2: An Artificial Intelligence Model for the Prognosis of Missense <i>KCNQ2</i> Gene Variants
Alba Saez-Matia, Markel G Ibarluzea, Sara M-Alicante, et al.
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of 6
Search research articles
Search
Showing results (31-40 of 58) with videos related to
Sort By:
Page
of 6
Orphanet Journal of Rare Diseases
|
April 3, 2026
AFG2A-related encephalopathy, expanding the neurodevelopmental and epileptic spectrum
Laia Nou-Fontanet, Gaetano Cantalupo, Frederik Braun, et al.
Medicina Clinica
|
November 7, 2009
[Cerebral creatine deficiency: first Spanish patients harbouring mutations in GAMT gene]
Angela Sempere, Carmen Fons, Angela Arias, et al.
Pediatric Neurology
|
January 15, 2022
Cerebrospinal Fluid Ion Analysis in Neonatal Seizures
Díadac Casas-Alba, Clara Oliva, María Del Carmen Salgado, et al.
Journal of Child Neurology
|
September 20, 2023
Methodology of a Natural History Study of a Rare Neurodevelopmental Disorder: Alternating Hemiplegia of Childhood as a Prototype Disease
Shital H Patel, Eleni Panagiotakaki, Maria T Papadopoulou, et al.
Journal of Human Genetics
|
August 19, 2016
Clinical and genetic features of 13 Spanish patients with KCNQ2 mutations
Montesclaros Hortigüela, Ana Fernández-Marmiesse, Verónica Cantarín, et al.
Clinical Biochemistry
|
September 11, 2007
Creatine transporter deficiency: prevalence among patients with mental retardation and pitfalls in metabolite screening
Angela Arias, Marc Corbella, Carmen Fons, et al.
Epilepsy & Behavior : E&B
|
November 29, 2025
The seen and unseen facets of Dravet syndrome across the disease trajectory: Insights from European ethnographic research
Liam Dorris, Luis Miguel Aras, Marion Danse, et al.
Movement Disorders Clinical Practice
|
November 20, 2023
Exploring the Spectrum of <i>RHOBTB2</i> Variants Associated with Developmental Encephalopathy 64: A Case Series and Literature Review
Sonia de Pedro Baena, Andrea Sariego Jamardo, Pedro Castro, et al.
Brain : a Journal of Neurology
|
October 27, 2010
Evidence of a non-progressive course of alternating hemiplegia of childhood: study of a large cohort of children and adults
Eleni Panagiotakaki, Giuseppe Gobbi, Brian Neville, et al.
International Journal of Molecular Sciences
|
March 13, 2024
MLe-KCNQ2: An Artificial Intelligence Model for the Prognosis of Missense <i>KCNQ2</i> Gene Variants
Alba Saez-Matia, Markel G Ibarluzea, Sara M-Alicante, et al.
Page
of 6