E-LIB Suche - Ergebnisse für: Weckhuysen, S

1

Increased prime edit rates in KCNQ2 and SCN1A via single ni..:

Dirkx, N. ; Weuring, Wout J. ; De Vriendt, E....
BMC Biology. 21 (2023) 1 - p. , 2023

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

2

V28. KCNA2 mutations cause epileptic encephalopathy by gain..:

Hedrich, U.B.S. ; Syrbe, S. ; Riesch, E....
Clinical Neurophysiology. 126 (2015) 8 - p. e80 , 2015

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

3

P37 – 2761: Neonatal epileptic encephalopathy with SLC13A5 ..:

Craiu, D. ; Anghelescu, C. ; Hardies, K..
European Journal of Paediatric Neurology. 19 (2015) - p. S104 , 2015

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

4

Clinical and genetic aspects of PCDH19-related epilepsy syn..:

van Harssel, J. J. T. ; Weckhuysen, S. ; van Kempen, M. J. A....
neurogenetics. 14 (2013) 1 - p. 23-34 , 2013

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

5

P25 – 2072 Diagnostic clues and difficulties in Dravet synd..:

Craiu, D ; Barca, D ; Burloiu, C...
European Journal of Paediatric Neurology. 17 (2013) - p. S61 , 2013

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

6

Clinical spectrum of early-onset epileptic encephalopathies..:

Deprez, L. ; Weckhuysen, S. ; Holmgren, P....
Neurology. 75 (2010) 13 - p. 1159-1165 , 2010

Link: https://doi.org/10.1212/..

7

O2-5 The clinical spectrum of STXBP1 mutations in early ons..:

Ceulemans, B. ; Weckhuysen, S. ; Verhaert, K....
European Journal of Paediatric Neurology. 13 (2009) - p. S4 , 2009

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

8

Genome-wide identification and phenotypic characterization ..:

Montanucci, L ; Lewis-Smith, D ; Collins, RL...
https://discovery.ucl.ac.uk/id/eprint/10177097/1/s41467-023-39539-6.pdf. , 2023

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

9

Functional and clinical studies reveal pathophysiological c..:

Palmer, EE ; Pusch, M ; Picollo, A...
http://hdl.handle.net/1959.4/unsworks_85769. , 2023

Link: http://hdl.handle.net/19..

10

Genome-wide identification and phenotypic characterization ..:

Montanucci L ; Lewis-Smith D ; Collins R. L...
info:eu-repo/semantics/altIdentifier/pmid/37474567. , 2023

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

11

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..

12

Natural History Study of STXBP1-Developmental and Epileptic..:

Stamberger, H ; Crosiers, D ; Balagura, G...
issn:0028-3878. , 2022

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

13

Association of ultra-rare coding variants with genetic gene..:

Koko M ; Motelow J. E ; Stanley K. E...
info:eu-repo/semantics/altIdentifier/pmid/35032048. , 2022

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

14

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

Motelow, JE ; Povysil, G ; Dhindsa, RS...
https://discovery.ucl.ac.uk/id/eprint/10131811/3/Sisodiya_Motelow_AJHG_manuscript_resubmission4.pdf. , 2021

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

15

Phenotypes and genotypes in non-consanguineous and consangu..:

Duerinckx, S ; Désir, J ; Perazzolo, C...
urn:issn:2324-9269. , 2021

Link: https://orbi.uliege.be/h..