Mutation spectrum and genotype-phenotype correlations in a large French cohort of MYH9-Related Disorders

por Saposnik, Béatrice, Binard, Sylvie, Fenneteau, Odile, Nurden, Alan, Nurden, Paquita, Hurtaud-Roux, Marie-Françoise, Schlegel, Nicole
Publicado 2014

Novel ACTN1 variants in cases of thrombocytopenia

por Vincenot, Anne, Saultier, Paul, Kunishima, Shinji, Poggi, Marjorie, Hurtaud‐Roux, Marie‐Françoise, Roussel, Alain, ACTN1 study coinvestigators, Schlegel, Nicole, Alessi, Marie‐Christine
Publicado 2019