E-LIB Suche - Ergebnisse für: Sisodiya, Sanjay M.

1

Germline homozygous missense DEPDC5 variants cause severe r..:

Ververi, Athina ; Zagaglia, Sara ; Menzies, Lara...
info:eu-repo/semantics/altIdentifier/doi/10.1093/hmg/ddac225. , 2023

Link: https://hal.science/hal-..

2

Patterns of subregional cerebellar atrophy across epilepsy ..:

Kerestes, Rebecca ; Perry, Andrew ; Vivash, Lucy...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10634708/. , 2023

Link: http://www.ncbi.nlm.nih...

3

Testing for pharmacogenomic predictors of ppRNFL thinning i..:

Boothman, Isabelle ; Clayton, Lisa M ; McCormack, Mark...
https://discovery.ucl.ac.uk/id/eprint/10178653/1/Sisodiya_Testing%20for%20pharmacogenomic%20predictors%20of%20ppRNFL%20thinning%20in%20individuals%20exposed%20to%20vigabatrin_VoR.pdf. , 2023

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

4

Testing for pharmacogenomic predictors of ppRNFL thinning i..:

Boothman, Isabelle ; Clayton, Lisa M S ; McCormack, Mark...
uri/info:doi/10.3389/fnins.2023.1156362. , 2023

Link: http://hdl.handle.net/20..

5

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..

6

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..

7

Beyond the Global Brain Differences: Intra-individual Varia..:

Boen, Rune ; Kaufmann, Tobias ; van der Meer, Dennis...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7615370/. , 2023

Link: http://www.ncbi.nlm.nih...

8

Climate change and the brain:

Sisodiya, Sanjay M
https://discovery.ucl.ac.uk/id/eprint/10167356/1/awad076.pdf. , 2023

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

9

Widespread genomic influences on phenotype in Dravet syndro..:

Martins Custodio, Helena ; Clayton, Lisa M ; Bellampalli, Ravishankara...
https://discovery.ucl.ac.uk/id/eprint/10167954/1/Sisodiya_awad111.pdf. , 2023

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

10

Twist exome capture allows for lower average sequence cover..:

Yaldiz, Burcu ; Kucuk, Erdi ; Hampstead, Juliet...
https://humgenomics.biomedcentral.com/articles/10.1186/s40246-023-00485-5. , 2023

Link: http://orbilu.uni.lu/han..

11

Germline homozygous missense DEPDC5 variants cause severe r..:

Ververi, Athina ; Zagaglia, Sara ; Menzies, Lara...
info:eu-repo/semantics/altIdentifier/doi/10.1093/hmg/ddac225. , 2023

Link: https://hal.science/hal-..

12

Genome-wide identification and phenotypic characterization ..:

Montanucci, Ludovica ; Lewis-Smith, David ; Collins, Ryan L...
info:eu-repo/semantics/altIdentifier/doi/10.1038/s41467-023-39539-6. , 2023

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

13

Sex-based electroclinical differences and prognostic factor..:

Cerulli Irelli, Emanuele ; Cocchi, Enrico ; Ramantani, Georgia...
info:eu-repo/semantics/altIdentifier/pmid/37021337. , 2023

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

14

Testing for pharmacogenomic predictors of ppRNFL thinning i..:

Boothman, Isabelle ; Clayton, Lisa M ; McCormack, Mark...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10542409/. , 2023

Link: http://www.ncbi.nlm.nih...

15

Short- and long-interval intracortical inhibition in EPM1 i..:

Silvennoinen, Katri ; Säisänen, Laura ; Hyppönen, Jelena...
https://discovery.ucl.ac.uk/id/eprint/10160624/7/Silvennoinen_Epilepsia%20-%202022%20-%20Silvennoinen%20-%20Short%E2%80%90%20and%20long%E2%80%90interval%20intracortical%20inhibition%20in%20EPM1%20is%20related%20to%20genotype.pdf. , 2023

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