Maria Elena Celle

Clinical and molecular characterization of Italian patients affected by Cohen syndrome

Eleni Katzaki, Chiara Pescucci, Vera Uliana et al. · Journal of Human Genetics · 2007 · 27 citations · Full text

Molecular Characterization, Mendelian Disorder, Genetic Disorder +6

Clinical and Molecular Cytogenetic Characterization of a de novo Interstitial 1p31.1p31.3 Deletion in a Boy with Moderate Intellectual Disability and Severe Language Impairment

Elisa Tassano, Alessandra Gamucci, Maria Elena Celle et al. · Cytogenetic and Genome Research · 2015 · 21 citations

Neurodegenerative Diseases, Developmental Biology, Neurobiology Of Disease +15

3q29 microduplication syndrome: Description of two new cases and delineation of the minimal critical region

Elisa Tassano, Sarà Uccella, Thea Giacomini et al. · European Journal of Medical Genetics · 2018 · 21 citations

Developmental Biology, Mendelian Disorder, Genetic Disorder +8

Periventricular nodular heterotopia in Smith‐Magenis syndrome

Valeria Capra, Roberta Biancheri, Giovanni Morana et al. · American Journal of Medical Genetics Part A · 2014 · 17 citations

Interstitial 2q24.3 deletion including SCN2A and SCN3A genes in a patient with autistic features, psychomotor delay, microcephaly and no history of seizures

Maria Elena Celle, Cristina Cuoco, Simona Porta et al. · Gene · 2013 · 13 citations

Syndromic Autism, Neurological Disorder, Genetics +11