Laura Anesi

Molecular Characterization of Large Deletions in the von Hippel-Lindau (VHL) Gene by Quantitative Real-Time PCR

Alberto Casarin, Maddalena Martella, Roberta Polli et al. · Molecular Diagnosis & Therapy · 2006 · 24 citations

Dna Sequencing, Functional Genomics, Molecular Biological Method +15

Two Novel Homozygous SACS Mutations in Unrelated Patients Including the First Reported Case of Paternal UPD as an Etiologic Cause of ARSACS

Laura Anesi, Paola de Gemmis, Massimo Pandolfo et al. · Journal of Molecular Neuroscience · 2010 · 20 citations · Full text

Unrelated Patients, Mendelian Disorder, Genetic Disorder +6

Analysis of the HPRT1 gene in 35 Italian Lesch–Nyhan families: 45 patients and 77 potential female carriers

Paola de Gemmis, Laura Anesi, Elisa Lorenzetto et al. · Mutation research. Fundamental and molecular mechanisms of mutagenesis · 2010 · 20 citations

Hprt1 Gene, Mendelian Disorder, Potential Female Carriers +11

An Italian Cohort Study Identifies Four New Pathologic Mutations in the ARSA Gene

Daniela Galla, Paola de Gemmis, Laura Anesi et al. · Journal of Molecular Neuroscience · 2013 · 19 citations

Angelman Syndrome Due to a Novel Splicing Mutation of the <i>UBE3A</i> Gene

Stefano Sartori, Laura Anesi, Roberta Polli et al. · Journal of Child Neurology · 2008 · 15 citations · Full text