Sandra Iossa

GJB2 Gene Mutations in Syndromic Skin Diseases with Sensorineural Hearing Loss.

Sandra Iossa, Elio Marciano, Annamaria Franzè · Current Genomics · 2011 · 51 citations · Full text

Sensorineural Hearing Loss, Genetics, Pathology +16

New evidence for the correlation of the p.G130V mutation in the <i>GJB2</i> gene and syndromic hearing loss with palmoplantar keratoderma

Sandra Iossa, Viviana Chinetti, Gennaro Auletta et al. · American Journal of Medical Genetics Part A · 2008 · 24 citations

Syndromic Hearing Loss, Genetics, Genetic Epidemiology +16

Phenotypic and genetic characterization of a family carrying two Xq21.1-21.3 interstitial deletions associated with syndromic hearing loss

Sandra Iossa, Valerio Costa, Virginia Corvino et al. · Molecular Cytogenetics · 2015 · 22 citations · Full text

Intragenic Deletion in &lt;b&gt;&lt;i&gt;MACROD2&lt;/i&gt;&lt;/b&gt;: A Family with Complex Phenotypes Including Microcephaly, Intellectual Disability, Polydactyly, Renal and Pancreatic Malformations

Barbara Lombardo, Daniela Esposito, Sandra Iossa et al. · Cytogenetic and Genome Research · 2019 · 18 citations

Novel compound heterozygous mutations in <i>BCS1L</i> gene causing Bjornstad syndrome in two siblings

Mariateresa Falco, Annamaria Franzè, Sandra Iossa et al. · American Journal of Medical Genetics Part A · 2017 · 13 citations