CNRGHMarion Imbert-Bouteille et al.LARP7 variants and further delineation of the Alazami syndrome phenotypic spectrum among primordial dwarfisms: 2 sistersEuropean Journal of Medical Genetics 2018, vol. 62, issue 3doi: 10.1016/j.ejmg.2018.07.003 2018 Circulating tumor DNA analysis enables molecular characterization of pediatric renal tumors at diagnosisToutes les publicationsSarcomeric disorganization and nemaline bodies in muscle biopsies of patients with EXOSC3 ‐related type 1 pontocerebellar hypoplasia
