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 · 185 citations · Full text

Clinical Disorders, Genetic Disorder, Genetics +7

<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 · 88 citations · Full text

Lysosomal Storage Disease, Genetics, Immunodeficiencies +25

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 · 75 citations · Full text

Identifies Mutations, Rare Diseases, Cdls Genes +14

[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

Expanding the clinical spectrum of the ‘<i><scp>HDAC8</scp></i>‐phenotype’ – implications for molecular diagnostics, counseling and risk prediction

Ilaria Parenti, Cristina Gervasini, Jelena Pozojevic et al. · Clinical Genetics · 2015 · 42 citations

Mendelian Disorder, Risk Prediction, Genetic Disorder +15