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Szepetowski, S.
17
results:
Search for persons
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Format
Online (17)
Mediatypes
Articles (Online) (8)
OpenAccess-fulltext (9)
Languages
english (16)
french (1)
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1
Le syndrome NISCH, une cause rare de cholestase néonatale :..:
Szepetowski, S.
;
Lacoste, C.
;
Mallet, S.
...
Archives de Pédiatrie. 24 (2017) 12 - p. 1228-1234 , 2017
Link:
https://doi.org/10.1016/..
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2
Update on the genetics of the epilepsy‐aphasia spectrum and..:
Lesca, Gaetan
;
M⊘ller, Rikke S.
;
Rudolf, Gabrielle
...
Epileptic Disorders. 21 (2019) S1 - p. , 2019
Link:
https://doi.org/10.1684/..
?
3
OP13 – 2799: Landau-Kleffner syndrome (LKS), continuous spi..:
Wright, S.
;
Waters, P.
;
Lesca, G.
...
European Journal of Paediatric Neurology. 19 (2015) - p. S5 , 2015
Link:
https://doi.org/10.1016/..
?
4
An SCN2A mutation in a family with infantile seizures from ..:
Lauxmann, Stephan
;
Boutry‐Kryza, Nadia
;
Rivier, Clotilde
...
Epilepsia. 54 (2013) 9 - p. , 2013
Link:
https://doi.org/10.1111/..
?
5
GRIN2A mutations cause epilepsy-aphasia spectrum disorders:
Carvill, Gemma L
;
Regan, Brigid M
;
Yendle, Simone C
...
Nature Genetics. 45 (2013) 9 - p. 1073-1076 , 2013
Link:
https://doi.org/10.1038/..
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6
Severe epilepsy, retardation, and dysmorphic features with ..:
Pereira, S.
;
Vieira, J. P.
;
Barroca, F.
...
Neurology. 63 (2004) 1 - p. 191-192 , 2004
Link:
https://doi.org/10.1212/..
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7
PIP2binding residues of Kir2.1 are common targets of mutati..:
Donaldson, M. R.
;
Jensen, J. L.
;
Tristani–Firouzi, M.
...
Neurology. 60 (2003) 11 - p. 1811-1816 , 2003
Link:
https://doi.org/10.1212/..
?
8
Homozygous Defects In Lmna, Encoding Lamin A/C Nuclear‐Enve..:
De Sandre‐Giovannoli, A
;
Chaouch, M
;
Kozlov, S
...
Journal of the Peripheral Nervous System. 7 (2002) 3 - p. 205-205 , 2002
Link:
https://doi.org/10.1046/..
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9
Neurodevelopmental and Epilepsy Phenotypes in Individuals W..:
Happ, Hannah, C
;
Sadleir, Lynette, G
;
Zemel, Matthew
...
info:eu-repo/semantics/altIdentifier/doi/10.1212/WNL.0000000000201492. , 2023
Link:
https://amu.hal.science/..
?
10
Neurodevelopmental and Epilepsy Phenotypes in Individuals W..:
Happ, Hannah, C
;
Sadleir, Lynette, G
;
Zemel, Matthew
...
info:eu-repo/semantics/altIdentifier/doi/10.1212/WNL.0000000000201492. , 2023
Link:
https://amu.hal.science/..
?
11
Neurodevelopmental and Epilepsy Phenotypes in Individuals W..:
Happ, Hannah C
;
Sadleir, Lynette G
;
Zemel, Matthew
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9946193/. , 2023
Link:
http://www.ncbi.nlm.nih...
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12
Neurodevelopmental and Epilepsy Phenotypes in Individuals W..:
Happ, Hannah C
;
Sadleir, Lynette G
;
Zemel, Matthew
...
https://research.rug.nl/en/publications/96a4cb4f-d328-42c4-b5ae-e38ebefebb41. , 2023
Link:
https://hdl.handle.net/1..
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13
Neurodevelopmental and Epilepsy Phenotypes in Individuals W..:
Happ, Hannah, C
;
Sadleir, Lynette, G
;
Zemel, Matthew
...
info:eu-repo/semantics/altIdentifier/doi/10.1212/WNL.0000000000201492. , 2023
Link:
https://amu.hal.science/..
?
14
Neurodevelopmental and Epilepsy Phenotypes in Individuals W..:
Happ, Hannah, C
;
Sadleir, Lynette, G
;
Zemel, Matthew
...
info:eu-repo/semantics/altIdentifier/doi/10.1212/WNL.0000000000201492. , 2023
Link:
https://amu.hal.science/..
?
15
Loss of function of the retinoid-related nuclear receptor (..:
Rudolf, Gabrielle
;
Lesca, Gaetan
;
Mehrjouy, Mana M
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5117930/. , 2016
Link:
http://www.ncbi.nlm.nih...
1-15