E-LIB Suche - Ergebnisse für: Depienne, Christel

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

Characterization of intronic pentanucleotide expansions in ..:

Bettges, Rahel Theres , 2023

Link: https://nbn-resolving.de..

3

Insights into familial adult myoclonus epilepsy pathogenesi..:

Depienne, Christel ; van den Maagdenberg, Arn M. J. M. ; Kühnel, Theresa...
Epilepsia. 64 (2023) S1 - p. , 2023

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

4

Novel Variants of SOX4 in Patients with Intellectual Disabi..:

Grosse, Martin ; Kuechler, Alma ; Dabir, Tabib...
International Journal of Molecular Sciences. 24 (2023) 4 - p. 3519 , 2023

Link: https://doi.org/10.3390/..

5

Intronic FGF14 GAA repeat expansions are a common cause of ..:

Pellerin, David ; Wilke, Carlo ; Traschütz, Andreas...
Journal of the Neurological Sciences. 455 (2023) - p. 121185 , 2023

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

6

Genome-wide Association Study Points to Novel Locus for Gil..:

Tsetsos, Fotis ; Topaloudi, Apostolia ; Jain, Pritesh...
Biological Psychiatry. , 2023

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

7

PHIP-associated Chung-Jansen syndrome: Report of 23 new ind..:

Kampmeier, Antje ; Leitão, Elsa ; Parenti, Ilaria...
Frontiers in Cell and Developmental Biology. 10 (2023) - p. , 2023

Link: https://doi.org/10.3389/..

8

A novel FAME1 repeat configuration in a European family ide..:

Maroilley, Tatiana ; Tsai, Meng‐Han ; Mascarenhas, Rumika...
Epilepsia Open. 8 (2023) 2 - p. 659-665 , 2023

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

9

Episignatures in practice: independent evaluation of publis..:

Husson, Thomas ; Lecoquierre, François ; Nicolas, Gaël...
European Journal of Human Genetics. , 2023

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

10

Effects of paternal and chronological age on BEGAIN methyla..:

Potabattula, Ramya ; Prell, Andreas ; Dittrich, Marcus...
Aging. 15 (2023) 22 - p. 12763-12779 , 2023

Link: https://doi.org/10.18632..

11

Polygenic risk score-based phenome-wide association study i..:

Jain, Pritesh ; Miller-Fleming, Tyne ; Topaloudi, Apostolia...
Translational Psychiatry. 13 (2023) 1 - p. , 2023

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

12

Gain-of-function variants in the ion channel gene TRPM3 und..:

Van Hoeymissen, Evelien ; Burglen, Lydie ; Qebibo, Leila...
eLife. 12 (2023) - p. , 2023

Link: https://doi.org/10.7554/..

13

De novo variants in CNOT9 cause a neurodevelopmental disord..:

von Wintzingerode, Lydia ; Ben-Zeev, Bruria ; Cesario, Claudia...
Genetics in Medicine. 25 (2023) 7 - p. 100859 , 2023

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

14

Genetics of familial adult myoclonus epilepsy: From linkage..:

Corbett, Mark A. ; Depienne, Christel ; Veneziano, Liana...
Epilepsia. 64 (2023) S1 - p. , 2023

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

15

IntronicFGF14GAA repeat expansions are a common cause of at..:

Pellerin, David ; Wilke, Carlo ; Traschütz, Andreas...
Journal of Neurology, Neurosurgery & Psychiatry. 95 (2023) 2 - p. 175-179 , 2023

Link: https://doi.org/10.1136/..