Risultati della ricerca - Julien Marcadier
- Mostra 1 - 2 risultati su 2
-
1
Genome Sequencing Identifies a Heterozygous Deletion of RBFOX2 in a Family With Congenital Heart Disease: A Case Report di Francesca Jean, Amanda Stuart, Julien Marcadier, Francois P. Bernier, Ryan E. Lamont
Pubblicazione 2025Testo
Artículo Open Access -
2
De Novo Truncating Variants in ZNF865 Cause a Novel Neurodevelopmental Disorder di Samuel M Bradbrook, Gail Graham, Melissa T. Carter, Maria Kibaek, Christina Fagerberg, Martin J. Larsen, Katherine Dawson, Cheryl Meuter, Alexander Pepler, Thomas Besnard, Marie Vincent, Bertrand Isidor, Stephane Bezieau, Benjamin Cogne, Kathrine Bjørgo, Silja Svanstrøm Amundsen, Thomas Courtin, Lisa Emrick, Jill A. Rosenfeld, Monika Weisz‐Hubshman, Bryan C. Mak, Julian Martinez‐Agosto, Mathilde Heulin, Gilles Morin, Boris Keren, Sacha Schutz, Pauline Monin, Mathilde Pujalte, Louis Januel, Gaetan Lesca, Marie‐Noëlle Bonnet‐Dupeyron Valence, Henri Margot, Jonathan Levy, Emmanuela Iovino, Federica Isidori, Tommaso Pippucci, Francesca Montanari, Lauren Bell, Jennifer Burton, Erin Torti, Ingrid M. Wentzensen, Julien Marcadier
Pubblicazione 2025Testo
Artículo Open Access