E-LIB Suche - Ergebnisse für: Syrbe, Steffen

1

Early life seizures and epileptic spasms in STXBP1‐related ..:

Thalwitzer, Kim M. ; Xian, Julie ; de Campo, Danielle...
Epilepsia. 65 (2024) 3 - p. 805-816 , 2024

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

2

A large and diverse brain organoid dataset of 1,400 cross-l..:

Schröter, Julian ; Deininger, Luca ; Lupse, Blaz...
Scientific Data. 11 (2024) 1 - p. , 2024

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

3

Clinical features and genotype–phenotype correlations in ep..:

Cuccurullo, Claudia ; Cerulli Irelli, Emanuele ; Ugga, Lorenzo...
Epilepsia. , 2024

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

4

Fat embolism syndrome in Duchenne muscular dystrophy: Repor..:

Specht, Sabine ; Zhukova, Irina ; Westhoff, Jens H....
European Journal of Paediatric Neurology. 48 (2024) - p. 91-100 , 2024

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

5

Etiological involvement of KCND1 variants in an X-linked ne..:

Kalm, Tassja ; Schob, Claudia ; Völler, Hanna...
The American Journal of Human Genetics. 111 (2024) 6 - p. 1206-1221 , 2024

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

6

The association of COVID-19 pandemic with the increase of s..:

Issa, Mohammed ; Kalliri, Vasiliki ; Euteneuer, Sara...
Neurosurgical Review. 47 (2024) 1 - p. , 2024

Link: https://doi.org/10.1007/..

7

De novo variants in SP9 cause a novel form of interneuronop..:

Tessarech, Marine ; Friocourt, Gaëlle ; Marguet, Florent...
Genetics in Medicine. 26 (2024) 5 - p. 101087 , 2024

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

8

Critical incidents, nocturnal supervision, and caregiver kn..:

Maltseva, Margarita ; Rosenow, Felix ; Schubert‐Bast, Susanne...
Epilepsia. 65 (2023) 1 - p. 115-126 , 2023

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

9

Homozygous loss-of-function variants in FILIP1 cause autoso..:

Schnabel, Franziska ; Schuler, Elisabeth ; Al-Maawali, Almundher...
Human Genetics. 142 (2023) 4 - p. 543-552 , 2023

Link: https://doi.org/10.1007/..

10

Sleep quality, anxiety, symptoms of depression, and caregiv..:

Maltseva, Margarita ; Schubert-Bast, Susanne ; Zöllner, Johann Philipp...
Orphanet Journal of Rare Diseases. 18 (2023) 1 - p. , 2023

Link: https://doi.org/10.1186/..

11

Epilepsy surgery in early infancy: A retrospective, multice..:

Makridis, Konstantin L. ; Klotz, Kerstin Alexandra ; Ramantani, Georgia...
Epilepsia Open. 8 (2023) 3 - p. 1182-1189 , 2023

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

12

De novo variants in KCNA3 cause developmental and epileptic..:

Soldovieri, Maria Virginia ; Ambrosino, Paolo ; Mosca, Ilaria...
Annals of Neurology. 95 (2023) 2 - p. 365-376 , 2023

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

13

ANK2 loss-of-function variants are associated with epilepsy..:

Teunissen, Maria W A ; Lewerissa, Elly ; van Hugte, Eline J H...
Human Molecular Genetics. 32 (2023) 14 - p. 2373-2385 , 2023

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

14

aRgus: Multilevel visualization of non-synonymous single nu..:

Schröter, Julian ; Dattner, Tal ; Hüllein, Jennifer...
Computational and Structural Biotechnology Journal. 21 (2023) - p. 1077-1083 , 2023

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

15

Real‐world data on cannabidiol treatment of various epileps..:

Kühne, Fabienne ; Becker, Lena‐Luise ; Bast, Thomas...
Epilepsia Open. 8 (2023) 2 - p. 360-370 , 2023

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