Stéphanie Valence
5PUBLICATIONS
146CO-AUTHORS
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Publications (5)
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|Mar 30, 2026
Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.Elsa Leitão, Amandine Santini, Benjamin Cogne
|Jun 21, 2023
BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients.Camille Engel, Stéphanie Valence, Geoffroy Delplancq
|Feb 23, 2023
Medullary Tegmental Cap Dysplasia: Fetal and Postnatal Presentations of a Unique Brainstem Malformation.M Gafner, C Garel, Z Leibovitz
|Oct 23, 2022
Prenatal diagnosis of vermian cyst: a new type of posterior fossa cyst.Justine Chanclud, Stéphanie Valence, Saskia Vande Perre
|Jul 14, 2019
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.Vincenzo Salpietro, Christine L Dixon, Hui Guo
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Frequent Collaborators
3 joint publications
Lydie Burglen
3 joint publications
Amy Schneider
2 joint publications
Gaetan Lesca
2 joint publications
Catherine Garel
2 joint publications
Anne-Sophie Denommé-Pichon
2 joint publications
Henry Houlden
2 joint publications
Maha S Zaki
2 joint publications
Christophe Philippe
2 joint publications
Ange-Line Bruel
2 joint publications
Alfredo Brusco
