E-LIB Suche - Ergebnisse für: Moller, Rikke S - Sprache EN

Search for persons X

Sorted by: Relevance

Sorted by: Year

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/..

2

Epilepsy as a Novel Phenotype of BPTF-Related Disorders:

Ferretti, Alessandro ; Furlan, Margherita ; Glinton, Kevin E....
Pediatric Neurology. 158 (2024) - p. 17-25 , 2024

Link: https://doi.org/10.1016/..

3

Haploinsufficiency underlies the neurodevelopmental consequ..:

Silva, Dina Buitrago ; Trinidad, Marena ; Ljungdahl, Alicia...
The American Journal of Human Genetics. 111 (2024) 6 - p. 1222-1238 , 2024

Link: https://doi.org/10.1016/..

4

Emergence of lingual dystonia and strabismus in early‐onset..:

Ancora, Caterina ; Ortigoza‐Escobar, Juan Dario ; Valletti, Margherita Aluffi...
Epileptic Disorders. 26 (2024) 2 - p. 219-224 , 2024

Link: https://doi.org/10.1002/..

5

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/..

6

Seizure and movement disorder in CACNA1E developmental and ..:

Di Micco, Valentina ; Affronte, Leonardo ; Khinchi, Marianne Søndergaard...
Epileptic Disorders. , 2024

Link: https://doi.org/10.1002/..

7

Generation of two patient specific GABRD variants and their..:

Kamand, Morad ; Taleb, Reema ; Wathikthinnakon, Methi...
Stem Cell Research. 76 (2024) - p. 103372 , 2024

Link: https://doi.org/10.1016/..

8

Providing quality care for people with CDKL5 deficiency dis..:

Amin, Sam ; Møller, Rikke S. ; Aledo‐Serrano, Angel...
Epilepsia Open. 9 (2024) 3 - p. 832-849 , 2024

Link: https://doi.org/10.1002/..

9

Phenotypic and functional assessment of two novel KCNQ2 gai..:

Bayat, Allan ; Iavarone, Stefano ; Miceli, Francesco...
Neurotherapeutics. 21 (2024) 1 - p. e00296 , 2024

Link: https://doi.org/10.1016/..

10

SLCO5A1 and synaptic assembly genes contribute to impulsivi..:

Roshandel, Delnaz ; Sanders, Eric J. ; Shakeshaft, Amy...
npj Genomic Medicine. 8 (2023) 1 - p. , 2023

Link: https://doi.org/10.1038/..

11

Clinical and electrophysiological features of SCN8A variant..:

Lyu, Hang ; Boßelmann, Christian M. ; Johannesen, Katrine M....
eBioMedicine. 98 (2023) - p. 104855 , 2023

Link: https://doi.org/10.1016/..

12

KCNT2‐Related Disorders: Phenotypes, Functional, and Pharma..:

Cioclu, Maria Cristina ; Mosca, Ilaria ; Ambrosino, Paolo...
Annals of Neurology. 94 (2023) 2 - p. 332-349 , 2023

Link: https://doi.org/10.1002/..

13

DNA methylation signature classification of rare disorders ..:

Hildonen, Mathis ; Ferilli, Marco ; Hjortshøj, Tina Duelund...
Clinical Genetics. 103 (2023) 6 - p. 688-692 , 2023

Link: https://doi.org/10.1111/..

14

Neurodevelopmental and Epilepsy Phenotypes in Individuals W..:

Happ, Hannah C. ; Sadleir, Lynette G. ; Zemel, Matthew...
Neurology. 100 (2023) 6 - p. , 2023

Link: https://doi.org/10.1212/..

15

Expansion of the phenotypic and molecular spectrum of CWF19..:

Alvarez, Carolina ; Grimmel, Mona ; Ebrahimi‐Fakhari, Darius...
Clinical Genetics. 103 (2023) 5 - p. 566-573 , 2023

Link: https://doi.org/10.1111/..

1-15