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1 . Academic Journal
Mise en évidence et exploration d’un phénotype rare D--
저자
by
Bichel, Nelly
;
Filosa, Lugdivine
;
Gautier, Agnès
;
Gouvitsos, Julia
;
Izard, Caroline
, et al.
소스
In
Transfusion clinique et biologique
September 2019 26(3) Supplement:S58-S58
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7 . Academic Journal
Faisabilité du génotypage érythrocytaire à partir d’un prélèvement salivaire
저자
by
Filosa, Lugdivine
;
Gross, Nelly
;
Gautier, Agnès
;
Laget, Laurine
;
Izard, Caroline
, et al.
소스
In
Transfusion clinique et biologique
September 2017 24(3) Supplement:346-346
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7 . Academic Journal
REcensement des Populations En situation d’Handicaps Rares et Épilepsies Sévères (REPEHRES) en établissements et services médico-sociaux (ESMS) dans la région des Pays-de-la-Loire
저자
by
Latour, Patrick
;
Chohin, Clothilde
;
Le Berre, Dominique
;
Colinot, Magali
;
Champion, Roger
, et al.
소스
In
Revue Neurologique
April 2016 172 Supplement 1:A14-A15
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7 . Periodical
Early and long‐term electroclinical features of patients with epilepsy and PCDH19mutation
저자
by
Chemaly, Nicole
;
Losito, Emma
;
Pinard, Jean Marc
;
Gautier, Agnès
;
Villeneuve, Nathalie
, et al.
소스
Epileptic Disorders; December 2018, Vol. 20 Issue: 6 p457-467, 11p
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7 . Book
Excellent Response to a Ketogenic Diet in a Patient with Alternating Hemiplegia of Childhood.
저자
by
Roubergue, Anne
;
Philibert, Bertrand
;
Gautier, Agnès
;
Kuster, Alice
;
Markowicz, Karine
, et al.
소스
JIMD Reports; 2015, p7-12, 6p
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7 . Academic Journal
Epilepsy diagnostic and treatment needs identified with a collaborative database involving tertiary centers in France
저자
by
Chipaux, Mathilde
;
Szurhaj, William
;
Vercueil, Laurent
;
Milh, Mathieu
;
Villeneuve, Nathalie
, et al.
소스
Epilepsia
. May 01, 2016 57(5):757-769
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7 . Academic Journal
Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases
저자
by
Di Meglio, Chloé
;
Lesca, Gaetan
;
Villeneuve, Nathalie
;
Lacoste, Caroline
;
Abidi, Affef
, et al.
소스
Epilepsia
. Dec 01, 2015 56(12):1931-1940
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7 . Academic Journal
Genomic aberrations of the CACNA2D1 gene in three patients with epilepsy and intellectual disability.
저자
by
Vergult, Sarah
;
Dheedene, Annelies
;
Meurs, Alfred
;
Faes, Fran
;
Isidor, Bertrand
, et al.
소스
European Journal of Human Genetics
. May2015, Vol. 23 Issue 5, p628-632. 5p.
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7 . Academic Journal
Mutations and Deletions in PCDH19 Account for Various Familial or Isolated Epilepsies in Females
저자
by
Depienne, Christel
;
Trouillard, Oriane
;
Bouteiller, Delphine
;
Gourfinkel-An, Isabelle
;
Poirier, Karine
, et al.
소스
Human Mutation
. Jan 01, 2011 32(1):E1959-E1975
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7 . Academic Journal
Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome
저자
by
Depienne, Christel
;
Trouillard, Oriane
;
Gourfinkel-An, Isabelle
;
Saint-Martin, Cécile
;
Bouteiller, Delphine
, et al.
소스
Journal of Medical Genetics
. Jun 01, 2010 47(6):404-410
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