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1 . Academic Journal
Loss of NDST1 N-sulfotransferase activity is associated with autosomal recessive intellectual disability.
저자
by
Khosrowabadi, Elham
;
Mignon-Ravix, Cécile
;
Riccardi, Florence
;
Cacciagli, Pierre
;
Desnous, Béatrice
, et al.
소스
Human Molecular Genetics; Mar2024, Vol. 33 Issue 6, p520-529, 10p
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7 . Academic Journal
Homozygous TBC1D24 mutation in two siblings with familial infantile myoclonic epilepsy (FIME) and moderate intellectual disability
저자
by
Poulat, Anne-Lise
;
Ville, Dorothée
;
de Bellescize, Julitta
;
André-Obadia, Nathalie
;
Cacciagli, Pierre
, et al.
소스
In
Epilepsy Research
March 2015 111:72-77
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7 . Academic Journal
TRAPPC2L-related disorder: first homozygous protein-truncating variant and further delineation of the phenotype.
저자
by
Abaji, Mario
;
Ravix, Cécile Mignon
;
Gorokhova, Svetlana
;
Cacciagli, Pierre
;
Mortreux, Jérémie
, et al.
소스
Journal of Medical Genetics; Oct2023, Vol. 60 Issue 10, p1021-1025, 6p
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7 . Academic Journal
NAPB and developmental and epileptic encephalopathy: Description of the electroclinical profile associated with a novel pathogenic variant.
저자
by
Mignon‐Ravix, Cécile
;
Riccardi, Florence
;
Daquin, Géraldine
;
Cacciagli, Pierre
;
Lamoureux‐Toth, Sylvie
, et al.
소스
Epilepsia (Series 4)
. Jun2023, Vol. 64 Issue 6, pe127-e134. 8p.
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7 . Academic Journal
N°179 – NAPB and developmental and epileptic encephalopathy: Description of the electro-clinical profile associated to a novel pathogenic variant
저자
by
Mignon-Ravix, Cécile
;
Riccardi, Florence
;
Daquin, Géraldine
;
Cacciagli, Pierre
;
Lamoureux-Toth, Sylvie
, et al.
소스
In
Clinical Neurophysiology
June 2023 150:e128-e128
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7 . Academic Journal
Characterization of a de novo balanced translocation in a patient with moderate mental retardation and dysmorphic features
저자
by
Haddad, Marie-Reine
;
Mignon-Ravix, Cécile
;
Cacciagli, Pierre
;
Mégarbané, André
;
Villard, Laurent
.
소스
In
European Journal of Medical Genetics
2009 52(4):211-217
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7 . Periodical
Molecular characterization of a 1p36 chromosomal duplication and in uterointerference define ENO1as a candidate gene for polymicrogyria
저자
by
El Waly, Bilal
;
Mignon-Ravix, Cécile
;
Cacciagli, Pierre
;
Buhler, Emmanuelle
;
ben Zeev, Bruria
, et al.
소스
European Journal of Human Genetics: EJHG; December 2020, Vol. 28 Issue: 12 p1703-1713, 11p
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7 . Academic Journal
Clinical study of 19 patients with SCN8A‐related epilepsy: Two modes of onset regarding EEG and seizures.
저자
by
Denis, Julien
;
Villeneuve, Nathalie
;
Cacciagli, Pierre
;
Mignon‐Ravix, Cecile
;
Lacoste, Caroline
, et al.
소스
Epilepsia (Series 4)
. May2019, Vol. 60 Issue 5, p845-856. 12p.
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7 . Academic Journal
Abnormal function of the UBA5 protein in a case of early developmental and epileptic encephalopathy with suppression‐burst.
저자
by
Mignon‐Ravix, Cécile
;
Milh, Mathieu
;
Kaiser, Charlotte Sophia
;
Daniel, Jens
;
Riccardi, Florence
, et al.
소스
Human Mutation; Jul2018, Vol. 39 Issue 7, p934-938, 5p
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7 . Academic Journal
Molecular characterization of a 1p36 chromosomal duplication and in utero interference define ENO1 as a candidate gene for polymicrogyria
저자
by
El Waly, Bilal
;
Mignon-Ravix, Cécile
;
Cacciagli, Pierre
;
Buhler, Emmanuelle
;
ben Zeev, Bruria
, et al.
소스
European Journal of Human Genetics
. 28(12):1703-1713
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