Simona Porta

First trimester fetal karyotyping: one thousand diagnoses

Giuseppe Simoni, Giorgio Gimelli, Cristina Cuoco et al. · Human Genetics · 1986 · 76 citations

Fetal Medicine, Gynecology, Maternal Health +4

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

Clinical and molecular characterization of a patient with interstitial 6q21q22.1 deletion

Elisa Tassano, Marisol Mirabelli-Badenier, Edvige Veneselli et al. · Molecular Cytogenetics · 2015 · 17 citations · Full text

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

A rare 3q13.31 microdeletion including GAP43 and LSAMP genes

Stefania Gimelli, Massimiliano Leoni, Maja Di Rocco et al. · Molecular Cytogenetics · 2013 · 10 citations · Full text