Julien Maraval
5PUBLICATIONS
120CO-AUTHORS
Get your video featured.
Publish with JoVEGet your video featured.
Publish with JoVE
Publications (5)
Sort by Publication Date:
|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
|Jan 23, 2026
De novo variants in the splicing factor gene SF3B1 are associated with neurodevelopmental disorders.Kevin Uguen, Tiffany Bergot, Marie-Pier Scott-Boyer
|Mar 19, 2025
Abnormal DNA Methylation Profile Suggests the Extension of the Clinical Spectrum of the SETD2 -Related Disorders to a Syndromic Multiple Tumor Phenotype.Marie Lucain, Antonio Vitobello, Bekim Sadikovic
|Sep 05, 2024
Expanding MNS1 Heterotaxy Phenotype.Julien Maraval, Andrée Delahaye-Duriez, Caroline Racine
|Jan 10, 2024
Confirmation and expansion of the phenotype of the TCEAL1-related neurodevelopmental disorder.Fatimah Albuainain, Yuwei Shi, Sarah Lor-Zade
Pageof 1
Frequent Collaborators
4 joint publications
Laurence Faivre
3 joint publications
Anne-Sophie Denommé-Pichon
2 joint publications
Benjamin Cogné
2 joint publications
Thomas Besnard
2 joint publications
Frederic Tran-Mau-Them
2 joint publications
Stéphane Bézieau
2 joint publications
Antonio Vitobello
2 joint publications
Ange-Line Bruel
2 joint publications
Marie Lucain
1 joint publications
Caroline Nava
