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Medrxiv : the Preprint Server for Health Sciences
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July 1, 2024
A Longitudinal Exploration of <i>CACNA1A</i> -related Hemiplegic Migraine in Children
Donna Schaare, Laina Lusk, Alexis Karlin, et al.
Epilepsia
|
May 20, 2022
Whole exome sequencing and co-expression analysis identify an SCN1A variant that modifies pathogenicity in a family with genetic epilepsy and febrile seizures plus
Michael F Hammer, Yanling Pan, Medhane Cumbay, et al.
Epilepsia
|
February 13, 2013
Variability of EEG-fMRI findings in patients with SCN1A-positive Dravet syndrome
Jan Moehring, Sarah von Spiczak, Friederike Moeller, et al.
BMC Medical Informatics and Decision Making
|
July 28, 2022
PheNominal: an EHR-integrated web application for structured deep phenotyping at the point of care
James M Havrilla, Anbumalar Singaravelu, Dennis M Driscoll, et al.
Epilepsia
|
May 22, 2019
Inclusion of hemimegalencephaly into the phenotypic spectrum of NPRL3 pathogenic variants in familial focal epilepsy with variable foci
Christina Canavati, Karl Martin Klein, Zaid Afawi, et al.
Neurocritical Care
|
October 2, 2023
A Comparison of Ketamine and Midazolam as First-Line Anesthetic Infusions for Pediatric Status Epilepticus
Marin Jacobwitz, Caitlyn Mulvihill, Michael C Kaufman, et al.
Artificial Intelligence in Medicine
|
April 26, 2023
Enriching representation learning using 53 million patient notes through human phenotype ontology embedding
Maryam Daniali, Peter D Galer, David Lewis-Smith, et al.
Developmental Medicine and Child Neurology
|
May 6, 2022
Visits of concern in child neurology telemedicine
Marisa Prelack, Sara Fridinger, Alexander K Gonzalez, et al.
European Journal of Pediatrics
|
August 27, 2009
Dyschromatosis ptychotropica: an unusual pigmentary disorder in a boy with epileptic encephalopathy and progressive atrophy of the central nervous system-a novel entity?
Ingo Helbig, Regina Fölster-Holst, Jochen Brasch, et al.
Genome Biology
|
July 7, 2025
Conserved missense variant pathogenicity and correlated phenotypes across paralogous genes
Tobias Brünger, Alina Ivaniuk, Eduardo Pérez-Palma, et al.
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of 30
Search research articles
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Showing results (71-80 of 292) with videos related to
Sort By:
Page
of 30
Medrxiv : the Preprint Server for Health Sciences
|
July 1, 2024
A Longitudinal Exploration of <i>CACNA1A</i> -related Hemiplegic Migraine in Children
Donna Schaare, Laina Lusk, Alexis Karlin, et al.
Epilepsia
|
May 20, 2022
Whole exome sequencing and co-expression analysis identify an SCN1A variant that modifies pathogenicity in a family with genetic epilepsy and febrile seizures plus
Michael F Hammer, Yanling Pan, Medhane Cumbay, et al.
Epilepsia
|
February 13, 2013
Variability of EEG-fMRI findings in patients with SCN1A-positive Dravet syndrome
Jan Moehring, Sarah von Spiczak, Friederike Moeller, et al.
BMC Medical Informatics and Decision Making
|
July 28, 2022
PheNominal: an EHR-integrated web application for structured deep phenotyping at the point of care
James M Havrilla, Anbumalar Singaravelu, Dennis M Driscoll, et al.
Epilepsia
|
May 22, 2019
Inclusion of hemimegalencephaly into the phenotypic spectrum of NPRL3 pathogenic variants in familial focal epilepsy with variable foci
Christina Canavati, Karl Martin Klein, Zaid Afawi, et al.
Neurocritical Care
|
October 2, 2023
A Comparison of Ketamine and Midazolam as First-Line Anesthetic Infusions for Pediatric Status Epilepticus
Marin Jacobwitz, Caitlyn Mulvihill, Michael C Kaufman, et al.
Artificial Intelligence in Medicine
|
April 26, 2023
Enriching representation learning using 53 million patient notes through human phenotype ontology embedding
Maryam Daniali, Peter D Galer, David Lewis-Smith, et al.
Developmental Medicine and Child Neurology
|
May 6, 2022
Visits of concern in child neurology telemedicine
Marisa Prelack, Sara Fridinger, Alexander K Gonzalez, et al.
European Journal of Pediatrics
|
August 27, 2009
Dyschromatosis ptychotropica: an unusual pigmentary disorder in a boy with epileptic encephalopathy and progressive atrophy of the central nervous system-a novel entity?
Ingo Helbig, Regina Fölster-Holst, Jochen Brasch, et al.
Genome Biology
|
July 7, 2025
Conserved missense variant pathogenicity and correlated phenotypes across paralogous genes
Tobias Brünger, Alina Ivaniuk, Eduardo Pérez-Palma, et al.
Page
of 30