Grazia Taddeucci

Molecular cytogenetic characterization of a de novo mosaic supernumerary ring chromosome 7: Report of a new patient

Veronica Bertini, Angelo Valetto, Angela Uccelli et al. · American Journal of Medical Genetics Part A · 2008 · 73 citations

Molecular cytogenetic characterization of an interstitial deletion of chromosome 21 (21q22.13q22.3) in a patient with dysmorphic features, intellectual disability and severe generalized epilepsy

Angelo Valetto, Alessandro Orsini, Veronica Bertini et al. · European Journal of Medical Genetics · 2012 · 68 citations

Mendelian Disorder, Cytogenetics, Genetic Disorder +8

?-galactosidase gene mutations affecting the lysosomal enzyme and the elastin-binding protein in GM1-gangliosidosis patients with cardiac involvement

Amelia Morrone, Tiziana Bardelli, Maria Alice Donati et al. · Human Mutation · 2000 · 66 citations

Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency

Martina Huemer, Regina Mulder‐Bleile, Patricie Burda et al. · Journal of Inherited Metabolic Disease · 2015 · 61 citations · Full text

BARTONELLA HENSELAE INFECTION ASSOCIATED WITH GUILLAIN-BARRÉ SYNDROME

Francesco Massei, Laura Gori, Grazia Taddeucci et al. · The Pediatric Infectious Disease Journal · 2006 · 36 citations

Zoonotic Disease, Pathogenesis, Bartonella Henselae Infection +6