Ivana Ricca

Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance

Jill Clayton‐Smith, Sarah Walters, Emma Hobson et al. · European Journal of Human Genetics · 2008 · 137 citations · Full text

Urology, Distinctive Facial Appearance, Xq28 Duplication +3

Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study

Angelica D’Amore, Alessandra Tessa, Carlo Casali et al. · Frontiers in Neurology · 2018 · 81 citations · Full text

A 12 Mb deletion at 7q33–q35 associated with autism spectrum disorders and primary amenorrhea

Elena Rossi, Anna Verri, Maria Grazia Patricelli et al. · European Journal of Medical Genetics · 2008 · 73 citations

Biallelic variants in <i>HPDL</i> cause pure and complicated hereditary spastic paraplegia

Manuela Wiessner, Reza Maroofian, Meng-Yuan Ni et al. · Brain · 2021 · 46 citations · Full text

Genetics, Biallelic Hpdl Variants, Pathology +20

Cortical dysplasia of the left temporal lobe might explain severe expressive-language delay in patients with duplication of the Williams–Beuren locus

Claudia Torniero, Bernardo Dalla Bernardina, Francesca Novara et al. · European Journal of Human Genetics · 2006 · 42 citations · Full text

Language Disorder, Neurolinguistics, Left Temporal Lobe +12