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European Journal of Medical Genetics|September 25, 2012
Focal congenital lipoatrophy and vascular malformation: a mild form of inverse Klippel-Trenaunay syndrome?Gerarda Cappuccio, Nicola Brunetti-PierriMolecular Genetics and Metabolism|July 5, 2020
A systematic cross-sectional survey of multiple sulfatase deficiencyGerarda Cappuccio, Marianna Alagia, Nicola Brunetti-PierriJournal of Visualized Experiments : Jove|October 14, 2024
Molecular Imaging of Human Brain Organoids Using Mass SpectrometrySaleh M Khalil, Gerarda Cappuccio, Feng Li, et al.Molecular Genetics & Genomic Medicine|May 7, 2019
Severe presentation and complex brain malformations in an individual carrying a CCND2 variantGerarda Cappuccio, Lorenzo Ugga, Elena Parrini, et al.Frontiers in Molecular Biosciences|June 12, 2023
Mass spectrometry imaging as an emerging tool for studying metabolism in human brain organoidsGerarda Cappuccio, Saleh M Khalil, Sivan Osenberg, et al.Journal of Inherited Metabolic Disease|January 27, 2019
Opening a window on lysosomal acid lipase deficiency: Biochemical, molecular, and epidemiological insightsGerarda Cappuccio, Taraka R Donti, Leroy Hubert, et al.JIMD Reports|February 23, 2013
Low-dose amitriptyline-induced acute dystonia in a patient with metachromatic leukodystrophyGerarda Cappuccio, Nicola Brunetti-Pierri, Gaetano Terrone, et al.European Journal of Medical Genetics|February 12, 2020
Two cases of 16q12.1q21 deletions and refinement of the critical regionDiletta Apuzzo, Gerarda Cappuccio, Taneli Vaisanen, et al.Italian Journal of Pediatrics|November 20, 2012
Cardiac valve disease: an unreported feature in Ehlers Danlos syndrome arthrocalasia type?Daniela Melis, Gerarda Cappuccio, Virginia Maria Ginocchio, et al.Metabolites|October 30, 2019
Sphingolipid Metabolism Perturbations in Rett SyndromeGerarda Cappuccio, Taraka Donti, Michele Pinelli, et al.Pageof 10