Loading...
Derniers dépôts
-
Elizabeth Werren, Guillermo Rodriguez Bey, Purvi Majethia, Parneet Kaur, Siddaramappa J Patil, et al.. Biallelic EPB41L3 variants underlie a developmental disorder with seizures and myelination defects. Brain - A Journal of Neurology , 2024, 147 (12), pp.4033-4042. ⟨10.1093/brain/awae299⟩. ⟨hal-04822764⟩
-
Abdelhakim Bouazzaoui, Chloé Quélin, Celine Rozel, Wilfrid Carré, Christèle Dubourg, et al.. Expanding the TUBB3‐Related Phenotypic Landscape: Fetal Diagnosis of Novel TUBB3 Variant Linked With Phenotypic Variability Within a Single Family. Prenatal Diagnosis, 2024, ⟨10.1002/pd.6715⟩. ⟨hal-04869950⟩