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Genetics in Medicine Open
|
December 13, 2024
Mosaic variants detectable in blood extend the clinicogenetic spectrum of <i>GLI3</i>-related hypothalamic hamartoma
Timothy E Green, Mark F Bennett, Ilka Immisch, et al.
Annals of Clinical and Translational Neurology
|
July 30, 2019
Second-hit DEPDC5 mutation is limited to dysmorphic neurons in cortical dysplasia type IIA
Wei Shern Lee, Sarah E M Stephenson, Katherine B Howell, et al.
Brain Communications
|
February 10, 2025
The genetic landscape and classification of infantile epileptic spasms syndrome requiring surgery due to suspected focal brain malformations
Matthew Coleman, Min Wang, Penny Snell, et al.
European Journal of Sport Science
|
August 18, 2018
Consensus statement on placebo effects in sports and exercise: The need for conceptual clarity, methodological rigour, and the elucidation of neurobiological mechanisms
Christopher Beedie, Fabrizio Benedetti, Diletta Barbiani, et al.
BMC Pediatrics
|
June 24, 2017
A multicentre randomised controlled trial of levetiracetam versus phenytoin for convulsive status epilepticus in children (protocol): Convulsive Status Epilepticus Paediatric Trial (ConSEPT) - a PREDICT study
Stuart R Dalziel, Jeremy Furyk, Megan Bonisch, et al.
Neurology
|
August 21, 2015
SCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizures
Katherine B Howell, Jacinta M McMahon, Gemma L Carvill, et al.
Lancet (London, England)
|
April 22, 2019
Levetiracetam versus phenytoin for second-line treatment of convulsive status epilepticus in children (ConSEPT): an open-label, multicentre, randomised controlled trial
Stuart R Dalziel, Meredith L Borland, Jeremy Furyk, et al.
Epilepsia
|
February 8, 2014
Is focal cortical dysplasia sporadic? Family evidence for genetic susceptibility
Richard J Leventer, Floor E Jansen, Simone A Mandelstam, et al.
Journal of Paediatrics and Child Health
|
June 5, 2013
High resolution chromosomal microarray in undiagnosed neurological disorders
Katherine B Howell, Andrew J Kornberg, A Simon Harvey, et al.
Neurology. Genetics
|
April 12, 2016
Epileptic spasms are a feature of DEPDC5 mTORopathy
Gemma L Carvill, Douglas E Crompton, Brigid M Regan, et al.
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of 14
Search research articles
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Showing results (111-120 of 133) with videos related to
Sort By:
Page
of 14
Genetics in Medicine Open
|
December 13, 2024
Mosaic variants detectable in blood extend the clinicogenetic spectrum of <i>GLI3</i>-related hypothalamic hamartoma
Timothy E Green, Mark F Bennett, Ilka Immisch, et al.
Annals of Clinical and Translational Neurology
|
July 30, 2019
Second-hit DEPDC5 mutation is limited to dysmorphic neurons in cortical dysplasia type IIA
Wei Shern Lee, Sarah E M Stephenson, Katherine B Howell, et al.
Brain Communications
|
February 10, 2025
The genetic landscape and classification of infantile epileptic spasms syndrome requiring surgery due to suspected focal brain malformations
Matthew Coleman, Min Wang, Penny Snell, et al.
European Journal of Sport Science
|
August 18, 2018
Consensus statement on placebo effects in sports and exercise: The need for conceptual clarity, methodological rigour, and the elucidation of neurobiological mechanisms
Christopher Beedie, Fabrizio Benedetti, Diletta Barbiani, et al.
BMC Pediatrics
|
June 24, 2017
A multicentre randomised controlled trial of levetiracetam versus phenytoin for convulsive status epilepticus in children (protocol): Convulsive Status Epilepticus Paediatric Trial (ConSEPT) - a PREDICT study
Stuart R Dalziel, Jeremy Furyk, Megan Bonisch, et al.
Neurology
|
August 21, 2015
SCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizures
Katherine B Howell, Jacinta M McMahon, Gemma L Carvill, et al.
Lancet (London, England)
|
April 22, 2019
Levetiracetam versus phenytoin for second-line treatment of convulsive status epilepticus in children (ConSEPT): an open-label, multicentre, randomised controlled trial
Stuart R Dalziel, Meredith L Borland, Jeremy Furyk, et al.
Epilepsia
|
February 8, 2014
Is focal cortical dysplasia sporadic? Family evidence for genetic susceptibility
Richard J Leventer, Floor E Jansen, Simone A Mandelstam, et al.
Journal of Paediatrics and Child Health
|
June 5, 2013
High resolution chromosomal microarray in undiagnosed neurological disorders
Katherine B Howell, Andrew J Kornberg, A Simon Harvey, et al.
Neurology. Genetics
|
April 12, 2016
Epileptic spasms are a feature of DEPDC5 mTORopathy
Gemma L Carvill, Douglas E Crompton, Brigid M Regan, et al.
Page
of 14