Grazia Nardella

Inter-observer variability in the delineation of pharyngo-laryngeal tumor, parotid glands and cervical spinal cord: Comparison between CT-scan and MRI

Xavier Geets, Jean‐François Daisne, Stephano Arcangeli et al. · Radiotherapy and Oncology · 2005 · 183 citations

Medicine, Oncology, Radiology +16

A novel dominant-negative FGFR1 variant causes Hartsfield syndrome by deregulating RAS/ERK1/2 pathway

Pietro Palumbo, Antonio Petracca, Roberto Maggi et al. · European Journal of Human Genetics · 2019 · 20 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Mutational spectrum and clinical signatures in 114 families with hereditary multiple osteochondromas: insights into molecular properties of selected exostosin variants

Carmela Fusco, Grazia Nardella, Rita Fischetto et al. · Human Molecular Genetics · 2019 · 19 citations

Life Sciences, Genetics, Molecular Genetics +17

A single-center study on 140 patients with cerebral cavernous malformations: 28 new pathogenic variants and functional characterization of a <i>PDCD10</i> large deletion

Grazia Nardella, Grazia Visci, Vito Guarnieri et al. · Human Mutation · 2018 · 18 citations

Medicine, Genetics, Molecular Genetics +17

Exon-Trapping Assay Improves Clinical Interpretation of COL11A1 and COL11A2 Intronic Variants in Stickler Syndrome Type 2 and Otospondylomegaepiphyseal Dysplasia

Lucia Micale, Silvia Morlino, Annalisa Schirizzi et al. · Genes · 2020 · 18 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17