Michela Malacarne

Cryptic chromosome deletions involving <i>SCN1A</i> in severe myoclonic epilepsy of infancy

Francesca Madia, Pasquale Striano, Elena Di Gennaro et al. · Neurology · 2006 · 79 citations

Life Sciences, Genetics, Molecular Genetics +17

Subtelomeric deletions of chromosome 9q: A novel microdeletion syndrome

Douglas R. Stewart, Alina Huang, Francesca Faravelli et al. · American Journal of Medical Genetics Part A · 2004 · 75 citations

Life Sciences, Genetics, Molecular Genetics +17

Benign Familial Infantile Convulsions: Mapping of a Novel Locus on Chromosome 2q24 and Evidence for Genetic Heterogeneity

Michela Malacarne, Elena Di Gennaro, Francesca Madia et al. · The American Journal of Human Genetics · 2001 · 73 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

14q13.1‐21.1 deletion encompassing the HPE8 locus in an adolescent with intellectual disability and bilateral microphthalmia, but without holoprosencephaly

Maria Piccione, Gregorio Serra, V Consiglio et al. · American Journal of Medical Genetics Part A · 2012 · 62 citations

Life Sciences, Genetics, Molecular Genetics +9

3q26.33–3q27.2 microdeletion: A new microdeletion syndrome?

Giorgia Mandrile, Anna Dubois, Jodi D. Hoffman et al. · European Journal of Medical Genetics · 2013 · 57 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14