Predictors of the utility of clinical exome sequencing as a first-tier genetic test in patients with Mendelian phenotypes: results from a referral center study on 603 consecutive c...

por Alix, Tom, Chéry, Céline, Josse, Thomas, Bronowicki, Jean-Pierre, Feillet, François, Guéant-Rodriguez, Rosa-Maria, Namour, Farès, Guéant, Jean-Louis, Oussalah, Abderrahim
Publicado 2023

Clinical, phenotypic and genetic landscape of case reports with genetically proven inherited disorders of vitamin B(12) metabolism: A meta-analysis

por Wiedemann, Arnaud, Oussalah, Abderrahim, Lamireau, Nathalie, Théron, Maurane, Julien, Melissa, Mergnac, Jean-Philippe, Augay, Baptiste, Deniaud, Pauline, Alix, Tom, Frayssinoux, Marine, Feillet, François, Guéant, Jean-Louis
Publicado 2022