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Annals of Clinical and Translational Neurology
|
September 5, 2015
PRIMA1 mutation: a new cause of nocturnal frontal lobe epilepsy
Michael S Hildebrand, Rick Tankard, Elena V Gazina, et al.
Human Mutation
|
June 3, 2021
Integrated in silico and experimental assessment of disease relevance of PCDH19 missense variants
Duyen H Pham, Melissa R Pitman, Raman Kumar, et al.
Annals of Neurology
|
November 19, 2025
Pathogenic Variants in RNU2-2, a Non-coding Spliceosomal RNA, Cause a Distinctive Developmental and Epileptic Encephalopathy
Annie T G Chiu, Mark F Bennett, Harshini Thiyagarajah, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
December 30, 2025
Bilateral frontal periventricular nodular heterotopia: a distinctive cortical malformation
Ine Hoogwijs, Simone A Mandelstam, George McGillivray, et al.
Epilepsia
|
October 22, 2019
The epileptology of GNB5 encephalopathy
Gemma Poke, Chontelle King, Alison Muir, et al.
Genes
|
August 26, 2023
Aicardi Syndrome Is a Genetically Heterogeneous Disorder
Thuong T Ha, Rosemary Burgess, Morgan Newman, et al.
NPJ Genomic Medicine
|
February 27, 2025
International Precision Child Health Partnership (IPCHiP): an initiative to accelerate discovery and improve outcomes in rare pediatric disease
Katherine B Howell, Susan M White, Amy McTague, et al.
Human Molecular Genetics
|
February 9, 2022
Sporadic hypothalamic hamartoma is a ciliopathy with somatic and bi-allelic contributions
Timothy E Green, Joshua E Motelow, Mark F Bennett, et al.
Annals of Neurology
|
April 10, 2018
The epilepsy phenotypic spectrum associated with a recurrent CUX2 variant
Nicolas Chatron, Rikke S Møller, Neena L Champaigne, et al.
Epilepsia
|
April 30, 2009
SCN1A duplications and deletions detected in Dravet syndrome: implications for molecular diagnosis
Carla Marini, Ingrid E Scheffer, Rima Nabbout, et al.
Page
of 59
Search research articles
Search
Showing results (451-460 of 586) with videos related to
Sort By:
Page
of 59
Annals of Clinical and Translational Neurology
|
September 5, 2015
PRIMA1 mutation: a new cause of nocturnal frontal lobe epilepsy
Michael S Hildebrand, Rick Tankard, Elena V Gazina, et al.
Human Mutation
|
June 3, 2021
Integrated in silico and experimental assessment of disease relevance of PCDH19 missense variants
Duyen H Pham, Melissa R Pitman, Raman Kumar, et al.
Annals of Neurology
|
November 19, 2025
Pathogenic Variants in RNU2-2, a Non-coding Spliceosomal RNA, Cause a Distinctive Developmental and Epileptic Encephalopathy
Annie T G Chiu, Mark F Bennett, Harshini Thiyagarajah, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
December 30, 2025
Bilateral frontal periventricular nodular heterotopia: a distinctive cortical malformation
Ine Hoogwijs, Simone A Mandelstam, George McGillivray, et al.
Epilepsia
|
October 22, 2019
The epileptology of GNB5 encephalopathy
Gemma Poke, Chontelle King, Alison Muir, et al.
Genes
|
August 26, 2023
Aicardi Syndrome Is a Genetically Heterogeneous Disorder
Thuong T Ha, Rosemary Burgess, Morgan Newman, et al.
NPJ Genomic Medicine
|
February 27, 2025
International Precision Child Health Partnership (IPCHiP): an initiative to accelerate discovery and improve outcomes in rare pediatric disease
Katherine B Howell, Susan M White, Amy McTague, et al.
Human Molecular Genetics
|
February 9, 2022
Sporadic hypothalamic hamartoma is a ciliopathy with somatic and bi-allelic contributions
Timothy E Green, Joshua E Motelow, Mark F Bennett, et al.
Annals of Neurology
|
April 10, 2018
The epilepsy phenotypic spectrum associated with a recurrent CUX2 variant
Nicolas Chatron, Rikke S Møller, Neena L Champaigne, et al.
Epilepsia
|
April 30, 2009
SCN1A duplications and deletions detected in Dravet syndrome: implications for molecular diagnosis
Carla Marini, Ingrid E Scheffer, Rima Nabbout, et al.
Page
of 59