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X
Ingrid E. Scheffer
1217  Ergebnisse:
Personensuche X
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1

Genotype–phenotype associations in 1018 individuals with SC..:

Gallagher, Declan ; Pérez‐Palma, Eduardo ; Bruenger, Tobias...
Epilepsia.  65 (2024)  4 - p. 1046-1059 , 2024
Link: https://doi.org/10.1111/..
 
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2

Diagnostic utility of exome sequencing followed by research..:

Kooshavar, Daniz ; Amor, David J ; Boggs, Kirsten...
Brain Communications.  6 (2024)  2 - p. , 2024
Link: https://doi.org/10.1093/..
 
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3

RNA variant assessment using transactivation and transdiffe..:

Nicolas-Martinez, Emmylou C. ; Robinson, Olivia ; Pflueger, Christian...
The American Journal of Human Genetics.  111 (2024)  8 - p. 1673-1699 , 2024
Link: https://doi.org/10.1016/..
 
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4

Practical considerations for the use of fenfluramine to man..:

Wirrell, Elaine C. ; Lagae, Lieven ; Scheffer, Ingrid E....
Epilepsia Open.  , 2024
Link: https://doi.org/10.1002/..
 
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5

Idiopathic Generalized Epilepsy: Misunderstandings, Challen..:

Devinsky, Orrin ; Elder, Christopher ; Sivathamboo, Shobi..
Neurology.  102 (2024)  3 - p. , 2024
Link: https://doi.org/10.1212/..
 
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6

Solving the Etiology of Developmental and Epileptic Encepha..:

Viswanathan, Sindhu ; Oliver, Karen L. ; Regan, Brigid M....
Annals of Neurology.  , 2024
Link: https://doi.org/10.1002/..
 
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7

Applying the ILAE diagnostic criteria for Lennox‐Gastaut sy..:

Nightscales, Russell ; Chen, Zhibin ; Barnard, Sarah...
Epilepsia Open.  9 (2024)  2 - p. 602-612 , 2024
Link: https://doi.org/10.1002/..
 
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8

Are Germline Mosaic TSC1/2 Variants Present in Controls? Im..:

Ye, Zimeng ; Lin, Sufang ; Zhao, Xia...
Pediatric Neurology.  150 (2024)  - p. 37-39 , 2024
Link: https://doi.org/10.1016/..
 
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9

Genetic architecture of childhood speech disorder: a review:

Morgan, Angela T. ; Amor, David J. ; St John, Miya D...
Molecular Psychiatry.  29 (2024)  5 - p. 1281-1292 , 2024
Link: https://doi.org/10.1038/..
 
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10

SCN8A self‐limited infantile epilepsy: Does epilepsy resolv..:

Young, Emma ; Harris, Rebekah ; Lieffering, Nico...
Epilepsia.  65 (2024)  8 - p. , 2024
Link: https://doi.org/10.1111/..
 
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11

Multiomic analysis implicates nuclear hormone receptor sign..:

de Nys, Rebekah ; van Eyk, Clare L. ; Ritchie, Tarin...
Translational Psychiatry.  14 (2024)  1 - p. , 2024
Link: https://doi.org/10.1038/..
 
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12

Differential diagnosis of familial adult myoclonic epilepsy:

Baykan, Betul ; Franceschetti, Silvana ; Canafoglia, Laura...
Epilepsia.  64 (2023)  S1 - p. , 2023
Link: https://doi.org/10.1111/..
 
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13

Fenfluramine treatment is associated with improvement in ev..:

Bishop, Kim I. ; Isquith, Peter K. ; Gioia, Gerard A....
Epilepsy & Behavior.  138 (2023)  - p. 108994 , 2023
Link: https://doi.org/10.1016/..
 
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14

Recognition and epileptology of protracted CLN3 disease:

Cameron, Jillian M. ; Damiano, John A. ; Grinton, Bronwyn...
Epilepsia.  64 (2023)  7 - p. 1833-1841 , 2023
Link: https://doi.org/10.1111/..
 
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15

Mosaic variants detectable in blood extend the clinicogenet..:

Green, Timothy E. ; Bennett, Mark F. ; Immisch, Ilka...
Genetics in Medicine Open.  1 (2023)  1 - p. 100810 , 2023
Link: https://doi.org/10.1016/..
 
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