M.-Françoise Vincent

Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project

David McHugh, Cynthia A. Cameron, José E. Abdenur et al. · Genetics in Medicine · 2011 · 352 citations · Full text

Medicine, Biochemistry, Mass Spectrometric Analysis +16

Molecular Analysis of the Mevalonate Kinase Gene in a Cohort of Patients with the Hyper-IgD and Periodic Fever Syndrome: Its Application as a Diagnostic Tool

Anna Simon, Laurence Cuisset, M.-Françoise Vincent et al. · Annals of Internal Medicine · 2001 · 96 citations

Life Sciences, Internal Medicine, Molecular Medicine +15

Niemann‐Pick disease type B: An unusual clinical presentation with multiple vertebral fractures*

Paul G.A. Volders, Jan Van Hove, Rik Lories et al. · American Journal of Medical Genetics · 2002 · 30 citations

Medicine, Genetics, Neurology +17