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Archives of Neurology
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May 16, 2007
Hereditary spastic paraplegia 3A associated with axonal neuropathy
Neviana Ivanova, Kristl G Claeys, Tine Deconinck, et al.
Epilepsia
|
February 27, 2024
Genotype-phenotype associations in 1018 individuals with SCN1A-related epilepsies
Declan Gallagher, Eduardo Pérez-Palma, Tobias Bruenger, et al.
Annals of Neurology
|
January 26, 2012
KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy
Sarah Weckhuysen, Simone Mandelstam, Arvid Suls, et al.
Neurology
|
January 25, 2022
Development and Validation of a Prediction Model for Early Diagnosis of <i>SCN1A</i>-Related Epilepsies
Andreas Brunklaus, Eduardo Pérez-Palma, Ismael Ghanty, et al.
Journal of Medical Genetics
|
April 15, 2016
A detailed clinical analysis of 13 patients with AUTS2 syndrome further delineates the phenotypic spectrum and underscores the behavioural phenotype
Gea Beunders, Jiddeke van de Kamp, Pradeep Vasudevan, et al.
European Journal of Human Genetics : EJHG
|
July 4, 2024
Burden re-analysis of neurodevelopmental disorder cohorts for prioritization of candidate genes
Noor Smal, Fatma Majdoub, Katrien Janssens, et al.
Annals of Neurology
|
September 22, 2007
Molecular consequences of dominant Bethlem myopathy collagen VI mutations
Naomi L Baker, Matthias Mörgelin, Rishika A Pace, et al.
Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics
|
May 5, 2019
Treatment Responsiveness in KCNT1-Related Epilepsy
Mark P Fitzgerald, Martina Fiannacca, Douglas M Smith, et al.
Journal of Neurology, Neurosurgery, and Psychiatry
|
October 9, 2013
PRRT2 mutations: exploring the phenotypical boundaries
Tania Djémié, Sarah Weckhuysen, Philip Holmgren, et al.
American Journal of Human Genetics
|
December 12, 2018
Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic Epilepsies
Gemma L Carvill, Krysta L Engel, Aishwarya Ramamurthy, et al.
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of 14
Search research articles
Search
Showing results (101-110 of 137) with videos related to
Sort By:
Page
of 14
Archives of Neurology
|
May 16, 2007
Hereditary spastic paraplegia 3A associated with axonal neuropathy
Neviana Ivanova, Kristl G Claeys, Tine Deconinck, et al.
Epilepsia
|
February 27, 2024
Genotype-phenotype associations in 1018 individuals with SCN1A-related epilepsies
Declan Gallagher, Eduardo Pérez-Palma, Tobias Bruenger, et al.
Annals of Neurology
|
January 26, 2012
KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy
Sarah Weckhuysen, Simone Mandelstam, Arvid Suls, et al.
Neurology
|
January 25, 2022
Development and Validation of a Prediction Model for Early Diagnosis of <i>SCN1A</i>-Related Epilepsies
Andreas Brunklaus, Eduardo Pérez-Palma, Ismael Ghanty, et al.
Journal of Medical Genetics
|
April 15, 2016
A detailed clinical analysis of 13 patients with AUTS2 syndrome further delineates the phenotypic spectrum and underscores the behavioural phenotype
Gea Beunders, Jiddeke van de Kamp, Pradeep Vasudevan, et al.
European Journal of Human Genetics : EJHG
|
July 4, 2024
Burden re-analysis of neurodevelopmental disorder cohorts for prioritization of candidate genes
Noor Smal, Fatma Majdoub, Katrien Janssens, et al.
Annals of Neurology
|
September 22, 2007
Molecular consequences of dominant Bethlem myopathy collagen VI mutations
Naomi L Baker, Matthias Mörgelin, Rishika A Pace, et al.
Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics
|
May 5, 2019
Treatment Responsiveness in KCNT1-Related Epilepsy
Mark P Fitzgerald, Martina Fiannacca, Douglas M Smith, et al.
Journal of Neurology, Neurosurgery, and Psychiatry
|
October 9, 2013
PRRT2 mutations: exploring the phenotypical boundaries
Tania Djémié, Sarah Weckhuysen, Philip Holmgren, et al.
American Journal of Human Genetics
|
December 12, 2018
Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic Epilepsies
Gemma L Carvill, Krysta L Engel, Aishwarya Ramamurthy, et al.
Page
of 14