Andrea Maiorana

Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders

Anna R. Duncan, Maya M. Polovitskaya, Héctor Gaitán‐Peñas et al. · The American Journal of Human Genetics · 2021 · 46 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Hypertrophic cardiomyopathy, cataract, developmental delay, lactic acidosis: A novel subtype of 3‐methylglutaconic aciduria

Gabriella Di Rosa, Federica Deodato, Ference J. Loupatty et al. · Journal of Inherited Metabolic Disease · 2006 · 33 citations

Medicine, Cardiology, Ophthalmology +16

Antenatal sonographic diagnosis of complicated ovarian cysts

P Preziosi, G. Fariello, Andrea Maiorana et al. · Journal of Clinical Ultrasound · 1986 · 24 citations

Medicine, Gynecology, Obstetrics +14

Models of radon exhalation from building structures: General and case-specific solutions

Christian Di Carlo, Andrea Maiorana, M. Ampollini et al. · The Science of The Total Environment · 2023 · 24 citations · Full text

Architecture, Building Science, Environmental Engineering +13

Newborn screening of homocystinuria: quantitative analysis of total homocyst(e)ine on dried blood spot by liquid chromatography with fluorimetric detection

R. Accinni, Jonica Campolo, Marina Parolini et al. · Journal of Chromatography B · 2003 · 20 citations

Pharmacy, Biochemistry, Pediatrics +12