E-LIB Suche - Ergebnisse für: Reinthaler, Eva M.

1

Exome sequencing in multiple sclerosis families identifies ..:

Vilariño-Güell, Carles ; Zimprich, Alexander ; Martinelli-Boneschi, Filippo...
PLOS Genetics. 15 (2019) 6 - p. e1008180 , 2019

Link: https://doi.org/10.1371/..

2

Rare gene deletions in genetic generalized and Rolandic epi..:

Jabbari, Kamel ; Bobbili, Dheeraj R. ; Lal, Dennis...
PLOS ONE. 13 (2018) 8 - p. e0202022 , 2018

Link: https://doi.org/10.1371/..

3

Exome-wide analysis of mutational burden in patients with t..:

EUROEPINOMICS COGIE Consortium ; Bobbili, Dheeraj R. ; Lal, Dennis...
European Journal of Human Genetics. 26 (2018) 2 - p. 258-264 , 2018

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

4

Evaluation of Presumably Disease Causing SCN1A Variants in ..:

Lal, Dennis ; Reinthaler, Eva M. ; Dejanovic, Borislav...
PLOS ONE. 11 (2016) 3 - p. e0150426 , 2016

Link: https://doi.org/10.1371/..

5

Burden Analysis of Rare Microdeletions Suggests a Strong Im..:

Lal, Dennis ; Ruppert, Ann-Kathrin ; Trucks, Holger...
PLOS Genetics. 11 (2015) 5 - p. e1005226 , 2015

Link: https://doi.org/10.1371/..

6

Rare variants in γ‐aminobutyric acid type A receptor genes ..:

Reinthaler, Eva M. ; Dejanovic, Borislav ; Lal, Dennis...
Annals of Neurology. 77 (2015) 6 - p. 972-986 , 2015

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

7

Analysis of ELP4, SRPX2, and interacting genes in typical a..:

Reinthaler, Eva M. ; Lal, Dennis ; Jurkowski, Wiktor...
Epilepsia. 55 (2014) 8 - p. , 2014

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

8

16p11.2 600 kb Duplications confer risk for typical and aty..:

Reinthaler, Eva M. ; Lal, Dennis ; Lebon, Sebastien...
Human Molecular Genetics. 23 (2014) 22 - p. 6069-6080 , 2014

Link: https://doi.org/10.1093/..

9

DEPDC5 mutations in genetic focal epilepsies of childhood:

Lal, Dennis ; Reinthaler, Eva M. ; Schubert, Julian...
Annals of Neurology. 75 (2014) 5 - p. 788-792 , 2014

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

10

RBFOX1 and RBFOX3 Mutations in Rolandic Epilepsy:

Lal, Dennis ; Reinthaler, Eva M. ; Altmüller, Janine...
PLoS ONE. 8 (2013) 9 - p. e73323 , 2013

Link: https://doi.org/10.1371/..

11

Correction: RBFOX1 and RBFOX3 Mutations in Rolandic Epileps:

Lal, Dennis ; Reinthaler, Eva M. ; Altmüller, Janine...
PLoS ONE. 8 (2013) 10 - p. , 2013

Link: https://doi.org/10.1371/..

12

Epilepsy, hippocampal sclerosis and febrile seizures linked..:

Kasperavičiūtė, Dalia ; Catarino, Claudia B. ; Matarin, Mar...
Brain. 136 (2013) 10 - p. 3140-3150 , 2013

Link: https://doi.org/10.1093/..

13

Mutations in GRIN2A cause idiopathic focal epilepsy with ro..:

Lemke, Johannes R ; Lal, Dennis ; Reinthaler, Eva M...
Nature Genetics. 45 (2013) 9 - p. 1067-1072 , 2013

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

14

Sub-genic intolerance, ClinVar, and the epilepsies: A whole..:

Canafoglia, Laura ; Goldstein, David B ; Lowenstein, Daniel H...
0eacb4d1-c0d8-4723-ac08-0ba3905057a6. , 2021

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

15

Shared genetic basis between genetic generalized epilepsy a..:

Stevelink, Remi ; Luykx, Jurjen J ; Lin, Bochao D...
info:eu-repo/semantics/altIdentifier/doi/10.1111/epi.16922. , 2021

Link: https://repository.vu.lt..