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Ingrid E Scheffer

Showing results (491-500 of 586) with videos related to

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Neurology|April 30, 2020
Severe childhood speech disorder: Gene discovery highlights transcriptional dysregulationMichael S Hildebrand, Victoria E Jackson, Thomas S Scerri, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 1, 2019
Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystoniaKamal Khan, Michael Zech, Angela T Morgan, et al.
Brain : a Journal of Neurology|July 5, 2022
Defective lipid signalling caused by mutations in PIK3C2B underlies focal epilepsyLuca Gozzelino, Gaga Kochlamazashvili, Sara Baldassari, et al.
Epilepsia|July 10, 2020
Defining the phenotype of FHF1 developmental and epileptic encephalopathyMarina Trivisano, Alessandro Ferretti, Elizabeth Bebin, et al.
Epilepsia|February 6, 2019
No evidence for a BRD2 promoter hypermethylation in blood leukocytes of Europeans with juvenile myoclonic epilepsyHerbert Schulz, Ann-Kathrin Ruppert, Federico Zara, et al.
Annals of Neurology|August 3, 2024
Solving the Etiology of Developmental and Epileptic Encephalopathy with Spike-Wave Activation in Sleep (D/EE-SWAS)Sindhu Viswanathan, Karen L Oliver, Brigid M Regan, et al.
Brain : a Journal of Neurology|October 23, 2002
Subcortical band heterotopia (SBH) in males: clinical, imaging and genetic findings in comparison with femalesMaria Daniela D'Agostino, Andrea Bernasconi, Soma Das, et al.
Epilepsia|January 21, 2021
The severe epilepsy syndromes of infancy: A population-based studyKatherine B Howell, Jeremy L Freeman, Mark T Mackay, et al.
American Journal of Human Genetics|September 26, 2017
De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with SeizuresCandace T Myers, Nicholas Stong, Emily I Mountier, et al.
Neuron|October 6, 2019
Inhibition of Upf2-Dependent Nonsense-Mediated Decay Leads to Behavioral and Neurophysiological Abnormalities by Activating the Immune ResponseJennifer L Johnson, Loredana Stoica, Yuwei Liu, et al.
Pageof 59

Showing results (491-500 of 586) with videos related to

Sort By:
Pageof 59
Neurology|April 30, 2020
Severe childhood speech disorder: Gene discovery highlights transcriptional dysregulationMichael S Hildebrand, Victoria E Jackson, Thomas S Scerri, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 1, 2019
Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystoniaKamal Khan, Michael Zech, Angela T Morgan, et al.
Brain : a Journal of Neurology|July 5, 2022
Defective lipid signalling caused by mutations in PIK3C2B underlies focal epilepsyLuca Gozzelino, Gaga Kochlamazashvili, Sara Baldassari, et al.
Epilepsia|July 10, 2020
Defining the phenotype of FHF1 developmental and epileptic encephalopathyMarina Trivisano, Alessandro Ferretti, Elizabeth Bebin, et al.
Epilepsia|February 6, 2019
No evidence for a BRD2 promoter hypermethylation in blood leukocytes of Europeans with juvenile myoclonic epilepsyHerbert Schulz, Ann-Kathrin Ruppert, Federico Zara, et al.
Annals of Neurology|August 3, 2024
Solving the Etiology of Developmental and Epileptic Encephalopathy with Spike-Wave Activation in Sleep (D/EE-SWAS)Sindhu Viswanathan, Karen L Oliver, Brigid M Regan, et al.
Brain : a Journal of Neurology|October 23, 2002
Subcortical band heterotopia (SBH) in males: clinical, imaging and genetic findings in comparison with femalesMaria Daniela D'Agostino, Andrea Bernasconi, Soma Das, et al.
Epilepsia|January 21, 2021
The severe epilepsy syndromes of infancy: A population-based studyKatherine B Howell, Jeremy L Freeman, Mark T Mackay, et al.
American Journal of Human Genetics|September 26, 2017
De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with SeizuresCandace T Myers, Nicholas Stong, Emily I Mountier, et al.
Neuron|October 6, 2019
Inhibition of Upf2-Dependent Nonsense-Mediated Decay Leads to Behavioral and Neurophysiological Abnormalities by Activating the Immune ResponseJennifer L Johnson, Loredana Stoica, Yuwei Liu, et al.
Pageof 59