Teresa Palladino

Hearing loss features in GJB2 biallelic mutations and GJB2/GJB6 digenic inheritance in a large Italian cohort

Elona Cama, Salvatore Melchionda, Teresa Palladino et al. · International Journal of Audiology · 2009 · 44 citations · Full text

Life Sciences, Audiology, Genetics +17

Expanding the mutation spectrum in 130 probands with ARPKD: identification of 62 novel PKHD1 mutations by sanger sequencing and MLPA analysis

Salvatore Melchionda, Teresa Palladino, Stefano Castellana et al. · Journal of Human Genetics · 2016 · 43 citations

Life Sciences, Genetics, Molecular Genetics +14

3p14.1 de novo microdeletion involving the FOXP1 gene in an adult patient with autism, severe speech delay and deficit of motor coordination

Orazio Palumbo, Leonardo D’Agruma, Adelaide Franca Minenna et al. · Gene · 2012 · 41 citations

Life Sciences, Genetics, Molecular Genetics +17

A novel deletion in 2q24.1q24.2 in a girl with mental retardation and generalized hypotonia: a case report

Orazio Palumbo, Pietro Palumbo, Teresa Palladino et al. · Molecular Cytogenetics · 2012 · 31 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Clinical and molecular characterization of an emerging chromosome 22q13.31 microdeletion syndrome

Pietro Palumbo, Maria Accadia, Maria Pia Leone et al. · American Journal of Medical Genetics Part A · 2017 · 22 citations

Life Sciences, Genetics, Molecular Genetics +17