Suggestions

Du même auteur

What do French patients and geneticists think about prenatal and preimplantation diagnoses in Marfan syndrome?

Archive ouverte | Coron, F | CCSD

International audience. Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder with manifestations mainly involving the skeletal, ocular, and cardiovascular systems. The phenotypic variability obs...

Cost of exome analysis in patients with intellectual disability: a micro-costing study in a French setting

Archive ouverte | Soilly, Al | CCSD

International audience. Background: With the development of next generation sequencing technologies in France, exome sequencing (ES) has recently emerged as an opportunity to improve the diagnosis rate of patients p...

Mild cystic fibrosis revealed by persistent hyponatremia during the French 2003 heat wave, associated with the S1455X C-terminus CFTR mutation

Archive ouverte | Epaud, R | CCSD

International audience

Chargement des enrichissements...