3 research outputs found
Étude de la qualité de vie des patients pris en charge en consultation de sevrage tabagique
MONTPELLIER-BU Médecine UPM (341722108) / SudocMONTPELLIER-BU Médecine (341722104) / SudocPARIS-BIUM (751062103) / SudocSudocFranceF
Open source non-invasive prenatal testing platform and its performance in a public health laboratory
Mutational analysis of TSC1 and TSC2 in Danish patients with tuberous sclerosis complex
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by hamartomas in the skin and other organs, including brain, heart, lung, kidney and bones. TSC is caused by mutations in TSC1 and TSC2. Here, we present the TSC1 and TSC2 variants identified in 168 Danish individuals out of a cohort of 327 individu