Benedetta Toschi

Molecular Analysis, Pathogenic Mechanisms, and Readthrough Therapy on a Large Cohort of<scp>K</scp>abuki Syndrome Patients

Lucia Micale, Bartolomeo Augello, Claudia Maffeo et al. · Human Mutation · 2014 · 103 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Mutation spectrum of MLL2 in a cohort of kabuki syndrome patients

Lucia Micale, Bartolomeo Augello, Carmela Fusco et al. · Orphanet Journal of Rare Diseases · 2011 · 99 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

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

Life Sciences, Genetics, Molecular Genetics +17

Constitutional FLCN mutations in patients with suspected Birt-Hogg-Dubé syndrome ascertained for non-cutaneous manifestations

Antonella Maffé, Benedetta Toschi, G Circo et al. · Clinical Genetics · 2010 · 46 citations

Life Sciences, Dermatology, Genetics +17

Pulp chamber features, prevalence of abscesses, disease severity, and PHEX mutation in X-linked hypophosphatemic rickets

Giampiero I. Baroncelli, Elisa Zampollo, Mario Manca et al. · Journal of Bone and Mineral Metabolism · 2020 · 37 citations

Dentistry, Pathobiology, Pathology +17