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Scheffer, Ingrid
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1

Experience of the first adult-focussed undiagnosed disease ..:

Wallis, Mathew ; Bodek, Simon D. ; Munro, Jacob...
Orphanet Journal of Rare Diseases.  19 (2024)  1 - p. , 2024
Link: https://doi.org/10.1186/..
 
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Gain-of-function effects by pore variants in Kv7.2 and Kv7...:

Taglialatela, Maurizio ; Nappi, Simone ; Alberini, Giulio...
Biophysical Journal.  123 (2024)  3 - p. 527a-528a , 2024
Link: https://doi.org/10.1016/..
 
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3

P305: Evaluation of the feasibility, diagnostic yield, and ..:

Yan Liang, Nicole Si ; Costain, Gregory ; D'Gama, Alissa...
Genetics in Medicine Open.  2 (2024)  - p. 101201 , 2024
Link: https://doi.org/10.1016/..
 
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Endophenotyping social cognition in the broader autism phen..:

Pua, Emmanuel Peng Kiat ; Desai, Tarishi ; Green, Cherie...
Autism Research.  17 (2023)  7 - p. 1365-1380 , 2023
Link: https://doi.org/10.1002/..
 
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Fenfluramine Treatment Is Associated With Improvement in Ev..:

Bishop, Kim ; Isquith, Peter ; Knupp, Kelly...
Neurology.  100 (2023)  17_supplement_2 - p. , 2023
Link: https://doi.org/10.1212/..
 
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Expanding genotype–phenotype correlations in FOXG1 syndrome..:

Brimble, Elise ; Reyes, Kathryn G. ; Kuhathaas, Kopika...
Orphanet Journal of Rare Diseases.  18 (2023)  1 - p. , 2023
Link: https://doi.org/10.1186/..
 
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7

Pre-recordrd: Developmental and epileptic encephalopathies ..:

Scheffer, Ingrid
Journal of the Neurological Sciences.  455 (2023)  - p. 121017 , 2023
Link: https://doi.org/10.1016/..
 
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8

Interim Analysis of Long-Term Safety and Efficacy of FINTEP..:

Knupp, Kelly ; Scheffer, Ingrid ; Ceulemans, Berten...
Neurology.  98 (2022)  18_supplement - p. , 2022
Link: https://doi.org/10.1212/..
 
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9

Quality of Life and Qualitative Caregiver Assessments in Ch..:

Sadleir, Lynette ; Hulihan, Joseph ; Messenheimer, John...
Neurology.  94 (2020)  15_supplement - p. , 2020
Link: https://doi.org/10.1212/..
 
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Cannabidiol Transdermal Gel in Children and Adolescents wit..:

Scheffer, Ingrid ; Hulihan, Joseph ; Messenheimer, John...
Neurology.  94 (2020)  15_supplement - p. , 2020
Link: https://doi.org/10.1212/..
 
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11

Long-Term Safety and Efficacy of Cannabidiol (CBD) Treatmen..:

Halford, Jonathan J. ; Scheffer, Ingrid ; Nabbout, Rima...
Neurology.  94 (2020)  15_supplement - p. , 2020
Link: https://doi.org/10.1212/..
 
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12

Long-Term Safety and Efficacy of Add-on Cannabidiol (CBD) T..:

Halford, Jonathan ; Scheffer, Ingrid ; Nabbout, Rima...
Neurology.  92 (2019)  15_supplement - p. , 2019
Link: https://doi.org/10.1212/..
 
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13

Generation of seven iPSC lines from peripheral blood mononu..:

Bozaoglu, Kiymet ; Gao, Yujing ; Stanley, Edouard...
Stem Cell Research.  39 (2019)  - p. 101516 , 2019
Link: https://doi.org/10.1016/..
 
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Genome‐wide association study: Exploring the genetic basis ..:

Schoeler, Natasha E. ; Leu, Costin ; Balestrini, Simona...
Epilepsia.  59 (2018)  8 - p. 1557-1566 , 2018
Link: https://doi.org/10.1111/..
 
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Heart Rate Variability in Epilepsy: A Potential SUDEP Risk ..:

Myers, Ken ; Bello-Espinosa, Luis ; Symonds, Joseph...
Neurology.  90 (2018)  15_supplement - p. , 2018
Link: https://doi.org/10.1212/..
 
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