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Epilepsia
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July 10, 2020
Defining the phenotype of FHF1 developmental and epileptic encephalopathy
Marina Trivisano, Alessandro Ferretti, Elizabeth Bebin, et al.
Science Translational Medicine
|
August 31, 2018
Inhibition of sodium/hydrogen exchanger 3 in the gastrointestinal tract by tenapanor reduces paracellular phosphate permeability
Andrew J King, Matthew Siegel, Ying He, et al.
Epilepsia
|
July 7, 2017
Epilepsy: Transition from pediatric to adult care. Recommendations of the Ontario epilepsy implementation task force
Danielle M Andrade, Anne S Bassett, Eduard Bercovici, et al.
Epilepsia
|
January 17, 2024
KCTD7-related progressive myoclonic epilepsy: Report of 42 cases and review of literature
Sangeetha Yoganathan, Robyn Whitney, Maya Thomas, et al.
NPJ Genomic Medicine
|
December 10, 2019
Re-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants in <i>SCN1A</i>
Charles A Steward, Jolien Roovers, Marie-Marthe Suner, et al.
Journal of Medical Genetics
|
July 1, 2016
De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy
Iris M de Lange, Katherine L Helbig, Sarah Weckhuysen, et al.
Brain : a Journal of Neurology
|
August 23, 2015
Faulty cardiac repolarization reserve in alternating hemiplegia of childhood broadens the phenotype
Fatima Jaffer, Andreja Avbersek, Rosaria Vavassori, et al.
Nature Communications
|
August 22, 2024
Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy
Emily Banks, Vincent Francis, Sheng-Jia Lin, et al.
Medrxiv : the Preprint Server for Health Sciences
|
February 14, 2024
Loss of symmetric cell division of apical neural progenitors drives <i>DENND5A</i>-related developmental and epileptic encephalopathy
Emily Banks, Vincent Francis, Sheng-Jia Lin, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
October 4, 2018
Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients
Cyril Mignot, Aoife C McMahon, Claire Bar, et al.
Page
of 33
Search research articles
Search
Showing results (311-320 of 324) with videos related to
Sort By:
Page
of 33
Epilepsia
|
July 10, 2020
Defining the phenotype of FHF1 developmental and epileptic encephalopathy
Marina Trivisano, Alessandro Ferretti, Elizabeth Bebin, et al.
Science Translational Medicine
|
August 31, 2018
Inhibition of sodium/hydrogen exchanger 3 in the gastrointestinal tract by tenapanor reduces paracellular phosphate permeability
Andrew J King, Matthew Siegel, Ying He, et al.
Epilepsia
|
July 7, 2017
Epilepsy: Transition from pediatric to adult care. Recommendations of the Ontario epilepsy implementation task force
Danielle M Andrade, Anne S Bassett, Eduard Bercovici, et al.
Epilepsia
|
January 17, 2024
KCTD7-related progressive myoclonic epilepsy: Report of 42 cases and review of literature
Sangeetha Yoganathan, Robyn Whitney, Maya Thomas, et al.
NPJ Genomic Medicine
|
December 10, 2019
Re-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants in <i>SCN1A</i>
Charles A Steward, Jolien Roovers, Marie-Marthe Suner, et al.
Journal of Medical Genetics
|
July 1, 2016
De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy
Iris M de Lange, Katherine L Helbig, Sarah Weckhuysen, et al.
Brain : a Journal of Neurology
|
August 23, 2015
Faulty cardiac repolarization reserve in alternating hemiplegia of childhood broadens the phenotype
Fatima Jaffer, Andreja Avbersek, Rosaria Vavassori, et al.
Nature Communications
|
August 22, 2024
Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy
Emily Banks, Vincent Francis, Sheng-Jia Lin, et al.
Medrxiv : the Preprint Server for Health Sciences
|
February 14, 2024
Loss of symmetric cell division of apical neural progenitors drives <i>DENND5A</i>-related developmental and epileptic encephalopathy
Emily Banks, Vincent Francis, Sheng-Jia Lin, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
October 4, 2018
Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients
Cyril Mignot, Aoife C McMahon, Claire Bar, et al.
Page
of 33