Novel homozygous missense variant of GRIN1 in two sibs with intellectual disability and autistic features without epilepsy

Por Rossi, Massimiliano, Chatron, Nicolas, Labalme, Audrey, Ville, Dorothée, Carneiro, Maryline, Edery, Patrick, des Portes, Vincent, Lemke, Johannes R, Sanlaville, Damien, Lesca, Gaetan
Publicado no Eur J Hum Genet (2017)

Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2

Por Milh, Mathieu, Boutry-Kryza, Nadia, Sutera-Sardo, Julie, Mignot, Cyril, Auvin, Stéphane, Lacoste, Caroline, Villeneuve, Nathalie, Roubertie, Agathe, Heron, Bénédicte, Carneiro, Maryline, Kaminska, Anna, Altuzarra, Cécilia, Blanchard, Gaëlle, Ville, Dorothée, Barthez, Marie Anne, Heron, Delphine, Gras, Domitille, Afenjar, Alexandra, Dorison, Nathalie, Doummar, Dianne, Billette de Villemeur, Thierry, An, Isabelle, Jacquette, Aurélia, Charles, Perrine, Perrier, Julie, Isidor, Bertrand, Vercueil, Laurent, Chabrol, Brigitte, Badens, Catherine, Lesca, Gaétan, Villard, Laurent
Publicado em 2013