Case report: Antenatal diagnostic of a polymalformative syndrome due to biallelic BRCA2 mutations

por Anquetil, Aude, Khung Savatovsky, Suonavy, Gavard, Laurent, Bazin, Anne, Guimiot, Fabien, Dubourg, Christele, Mandelbrot, Laurent, Picone, Olivier
Publicado 2021

Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP Dysregulation

por Grampa, Valentina, Delous, Marion, Zaidan, Mohamad, Odye, Gweltas, Thomas, Sophie, Elkhartoufi, Nadia, Filhol, Emilie, Niel, Olivier, Silbermann, Flora, Lebreton, Corinne, Collardeau-Frachon, Sophie, Rouvet, Isabelle, Alessandri, Jean-Luc, Devisme, Louise, Dieux-Coeslier, Anne, Cordier, Marie-Pierre, Capri, Yline, Khung-Savatovsky, Suonavy, Sigaudy, Sabine, Salomon, Rémi, Antignac, Corinne, Gubler, Marie-Claire, Benmerah, Alexandre, Terzi, Fabiola, Attié-Bitach, Tania, Jeanpierre, Cécile, Saunier, Sophie
Publicado 2016