Three patients presenting with severe macrosomia and congenital hypertrophic cardiomyopathy: a case series

Por Vincent, Marie, Benbrik, Nadir, Romefort, Bénédicte, Colombel, Agnès, Bézieau, Stéphane, Isidor, Bertrand
Publicado no J Med Case Rep (2017)

Neonatal Marfan Syndrome: Report of a Case with an Inherited Splicing Mutation outside the Neonatal Domain

Por Le Gloan, Laurianne, Hauet, Quentin, David, Albert, Hanna, Nadine, Arfeuille, Chloé, Arnaud, Pauline, Boileau, Catherine, Romefort, Bénédicte, Benbrik, Nadir, Gournay, Véronique, Joram, Nicolas, Baron, Olivier, Isidor, Bertrand
Publicado no Mol Syndromol (2016)