E Tarantino

Clinical score of 62 Italian patients with Cornelia de Lange syndrome and correlations with the presence and type of <i>NIPBL</i> mutation

Angelo Selicorni, Silvia Russo, Cristina Gervasini et al. · Clinical Genetics · 2007 · 144 citations

Life Sciences, Genetics, Molecular Genetics +9

Molecular cytogenetic characterization of a de novo mosaic supernumerary ring chromosome 7: Report of a new patient

Veronica Bertini, Angelo Valetto, Angela Uccelli et al. · American Journal of Medical Genetics Part A · 2008 · 73 citations

Life Sciences, Genetics, Molecular Genetics +15

Outcome of Patients with Esophageal Perforations: A Multicenter Study

Fausto Biancari, Juha Saarnio, Ari Mennander et al. · World Journal of Surgery · 2013 · 68 citations

Medicine, Surgery, Gastroenterology +9

Two cases of misinterpretation of molecular results in incontinentia pigmenti, and a PCR-based method to discriminate NEMO/IKK? dene deletion

Tiziana Bardaro, Geppino Falco, Angela Sparago et al. · Human Mutation · 2002 · 67 citations

Life Sciences, Genetics, Molecular Genetics +11

Aarskog–Scott syndrome: Clinical update and report of nine novel mutations of the <i>FGD1</i> gene

Alfredo Orrico, Lucia Galli, Laurence Faivre et al. · American Journal of Medical Genetics Part A · 2010 · 56 citations

Life Sciences, Genetics, Molecular Genetics +17