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Szepetowski, S.
8  Ergebnisse:
Artikel (Online) X
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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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