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Weckhuysen, S
401
results:
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Online (401)
Mediatypes
Articles (Online) (94)
OpenAccess-fulltext (307)
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english (359)
spanish (1)
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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/..
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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/..
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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/..
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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/..
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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..
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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..
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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..
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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..
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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..
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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..
1-15