E-LIB Suche - Ergebnisse für: Zeidler, Shimriet

1

PSMD11 loss-of-function variants correlate with a neurobeha..:

Deb, Wallid ; Rosenfelt, Cory ; Vignard, Virginie...
The American Journal of Human Genetics. 111 (2024) 7 - p. 1352-1369 , 2024

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

2

5,10‐methenyltetrahydrofolate synthetase deficiency: An ext..:

Liepina, Lelde ; Smith, Desiree E. C. ; Huidekoper, Hidde...
JIMD Reports. 65 (2024) 2 - p. 49-55 , 2024

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

3

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/..

4

Hemizygous variants in protein phosphatase 1 regulatory sub..:

Liu, Zhigang ; Xin, Baozhong ; Smith, Iris N...
Human Molecular Genetics. 32 (2023) 20 - p. 2981-2995 , 2023

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

5

Epilepsy is an important feature of KBG syndrome associated..:

Buijsse, Nathan ; Jansen, Floor E. ; Ockeloen, Charlotte W....
Epilepsia Open. 8 (2023) 4 - p. 1300-1313 , 2023

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

6

Gain-of-function and loss-of-function GABRB3 variants lead ..:

Absalom, Nathan L. ; Liao, Vivian W. Y. ; Johannesen, Katrine M. H....
Nature Communications. 13 (2022) 1 - p. , 2022

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

7

The phenotypic spectrum and genotype-phenotype correlations..:

Dingemans, Alexander J. M. ; Truijen, Kim M. G. ; van de Ven, Sam...
Translational Psychiatry. 12 (2022) 1 - p. , 2022

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

8

A missense variant in the nuclear export signal of the FMR1..:

Zeidler, Shimriet ; Severijnen, Lies Anne ; de Boer, Helen...
Gene. 768 (2021) - p. 145298 , 2021

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

9

Paradoxical effect of baclofen on social behavior in the fr..:

Zeidler, Shimriet ; Pop, Andreea S. ; Jaafar, Israa A....
Brain and Behavior. 8 (2018) 6 - p. , 2018

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

10

CXorf56, a dendritic neuronal protein, identified as a new ..:

Verkerk, Annemieke J. M. H. ; Zeidler, Shimriet ; Breedveld, Guido...
European Journal of Human Genetics. 26 (2018) 4 - p. 552-560 , 2018

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

11

Combination Therapy in Fragile X Syndrome; Possibilities an..:

Zeidler, Shimriet ; de Boer, Helen ; Hukema, Renate K..
Frontiers in Molecular Neuroscience. 10 (2017) - p. , 2017

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

12

Impaired GABAergic inhibition in the hippocampus of Fmr1 kn..:

Sabanov, Victor ; Braat, Sien ; D'Andrea, Laura...
Neuropharmacology. 116 (2017) - p. 71-81 , 2017

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

13

Translational endpoints in fragile X syndrome:

de Esch, Celine E.F. ; Zeidler, Shimriet ; Willemsen, Rob
Neuroscience & Biobehavioral Reviews. 46 (2014) - p. 256-269 , 2014

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

14

Epilepsy is an important feature of KBG syndrome associated..:

Buijsse, Nathan ; Jansen, Floor E ; Ockeloen, Charlotte W...
Buijsse , N , Jansen , F E , Ockeloen , C W , van Kempen , M J A , Zeidler , S , Willemsen , M H , Scarano , E , Monticone , S , Zonneveld-Huijssoon , E , Low , K J , Bayat , A , Sisodiya , S M , Samanta , D , Lesca , G , de Jong , D , Giltay , J C , Verbeek , N E , Kleefstra , T , Brilstra , E H & Vlaskamp , D R M 2023 , ' Epilepsy is an important feature of KBG syndrome associated with poorer developmental outcome ' , Epilepsia Open . https://doi.org/10.1002/epi4.12799. , 2023

Link: https://hdl.handle.net/1..

15

Epilepsy is an important feature of KBG syndrome associated..:

Buijsse, Nathan ; Jansen, Floor E ; Ockeloen, Charlotte W...
https://discovery.ucl.ac.uk/id/eprint/10175743/1/Epilepsia%20Open%20-%202023%20-%20Buijsse.pdf. , 2023

Link: https://discovery.ucl.ac..