E-LIB Suche - Ergebnisse für: Brunklaus, D

1

Delineation of functionally essential protein regions for 2..:

Iqbal, S ; Brunger, T ; Perez-Palma, E...
10.1093/brain/awac381. , 2023

2

ILAE Genetic Literacy Series: Postmorterm Genetic Testing i..:

Bagnall, RD ; Perucca, P ; Cross, JH...
https://discovery.ucl.ac.uk/id/eprint/10174215/1/Postmortem%20Genetic%20Testing%20in%20Sudden%20Unexpected%20Death.pdf. , 2023

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

3

ILAE Genetic Literacy Series: Self-limited familial epileps..:

Millevert, C ; Weckhuysen, S ; Perucca, P...
https://discovery.ucl.ac.uk/id/eprint/10173262/1/Self%20limited%20familial%20epilepsy%20syndromes%20with%20onset.pdf. , 2023

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

4

International consensus recommendations for management of n..:

Wickstrom R ; Taraschenko O ; Dilena R...
info:eu-repo/semantics/altIdentifier/pmid/35997591. , 2022

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

5

The gain of function SCN1A disorder spectrum: novel epileps..:

Brunklaus, A ; Bruenger, T ; Feng, T...
issn:0006-8950. , 2022

Link: http://hdl.handle.net/11..

6

Gene variant effects across sodium channelopathies predict ..:

Brunklaus, A ; Feng, T ; Brünger, T...
https://discovery.ucl.ac.uk/id/eprint/10142330/1/Schorge_awac006.pdf. , 2022

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

7

International consensus recommendations for management of n..:

Wickstrom R ; Taraschenko O ; Dilena R...
info:eu-repo/semantics/altIdentifier/pmid/35951466. , 2022

Link: http://hdl.handle.net/11..

8

Gene variant effects across sodium channelopathies predict ..:

Brunklaus, A ; Feng, T ; Brünger, T...
https://openaccess.sgul.ac.uk/id/eprint/114247/6/awac006.pdf. , 2022

Link: https://openaccess.sgul...

9

Biological concepts in human sodium channel epilepsies and ..:

Brunklaus, A ; Du, J ; Steckler, F...
https://discovery.ucl.ac.uk/id/eprint/10093116/3/Schorge_1Brunklaus%20Main_Manuscript%20for%20uploading.pdf. , 2020

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

10

SCN1A variants from bench to bedside-improved clinical pred..:

Brunklaus, A ; Schorge, S ; Smith, AD...
https://discovery.ucl.ac.uk/id/eprint/10091164/4/Schorge_SCN1A%20variants%20from%20bench%20to%20bedside-improved%20clinical%20prediction%20from%20functional%20characterization_AAM.pdf. , 2020

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

11

Long-term predictors of developmental outcome and disease b..:

Feng, Tony ; Makiello, Phoebe ; Dunwoody, Benjamin...
https://eprints.gla.ac.uk/316089/2/316089.pdf. , 2024

Link: https://eprints.gla.ac.u..

12

Det inkluderande, hållbara och uppkopplade samhället : Utvä..:

Brunklaus, Birgit ; Chiew, Yoon Lin ; Dincer, Hasan...
RISE Rapport. , 2023

Link: http://urn.kb.se/resolve..

13

Gene variant effects across sodium channelopathies predict ..:

Brunklaus, Andreas ; Feng, Tony ; Brunger, Tobias...
10.1093/brain/awac006. , 2023

Link: http://hdl.handle.net/10..

14

Safe to circulate : public report:

Gutkin, Renaud ; Wirje, Anders ; Nilsson-Lindén, Hanna...
orcid:0000-0003-1550-5557. , 2023

Link: http://urn.kb.se/resolve..

15

Coordinating Anions "to the Rescue" of the Lithium Ion Mobi..:

Hoffknecht, Jan-Philipp ; Wettstein, Alina ; Atik, Jaschar...
info:eu-repo/semantics/altIdentifier/doi/10.34734/FZJ-2023-01300. , 2023

Link: https://juser.fz-juelich..