Milena Mariani

(Epi)genotype–phenotype correlations in Beckwith–Wiedemann syndrome

Alessandro Mussa, Silvia Russo, Agostina De Crescenzo et al. · European Journal of Human Genetics · 2015 · 189 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

<i>De Novo</i>Heterozygous Mutations in<i>SMC3</i>Cause a Range of Cornelia de Lange Syndrome-Overlapping Phenotypes

María Concepción Gil‐Rodríguez, Matthew A. Deardorff, Morad Ansari et al. · Human Mutation · 2015 · 89 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Broadening of cohesinopathies: exome sequencing identifies mutations in <i><scp>ANKRD11</scp></i> in two patients with Cornelia de Lange‐overlapping phenotype

Ilaria Parenti, Cristina Gervasini, Jelena Pozojevic et al. · Clinical Genetics · 2015 · 78 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

[The management of syncope in the hospital: the OESIL Study (Osservatorio Epidemiologico della Sincope nel Lazio)].

Fabrizio Ammirati, Furio Colivicchi, G Minardi et al. · PubMed · 1999 · 66 citations

Medicine, Internal Medicine, Emergency +6

<i>ANKRD11</i> variants: <scp>KBG</scp> syndrome and beyond

Ilaria Parenti, Mark Mallozzi, Irina Hüning et al. · Clinical Genetics · 2021 · 47 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17